Cytogenetic Abnormalities Implicated in Cases With Autism; an Overview of All Published Regions Of
Interest (CROIs) with Regard to the Autism Phenotype
Notes:
1) In some cases the karyotype annotation has been adapted to meet the standards of ISCN1995 format.
2) In some cases the karyotype annotation has been corrected based upon current localization of molecular markers and DNA-probes.
3) Case entries can be tracked in the chromosome ideogram by identifying bar(s) with the same color, thicker bars indicate a higher number of
cases in the same case report.
4) Phenotype rating is based upon the following criteria:
Quality of phenotype
***** (5)
****
(4)
***
(3)
**
(2)
*
(1)
Criteria
Validated checklist and diagnosis according DSM or ICD classification
Validated checklist or diagnosis according DSM or ICD classification and clinical description
Diagnosis with clinical description without classification.
Clinical description highly suggestive for autism but without formal diagnosis.
Some clinical autistic like features – no formal diagnosis
5) In each case, the optimal identification of the molecular boundaries of CROIs is presented using a megabase (Mb) scale. When available,
positions of molecular markers or DNA-probes were used. For chromosome 15 and 22, the position of low copy repeats (LCR) were used
based upon available literature and information from the UCSC genome browser (http://www.genome.ucsc.edu/cgi-bin/hgGateway). In
cases where only a karyotype was available, the relevant chromosome bands were used to obtain the approximate molecular boundaries of
the CROI.
6) In some cases the authors were contacted in an attempt to obtain more updated information (for instance on the position of molecular
marker results or methods used to obtain the autism spectrum diagnosis). These entries are annotated with “pers. comm”.
7) Abbreviations: “ASD” = Autism Spectrum Disorder, “BP” = Breakpoint, “Pers. comm.” = Personal communication with author,
“LCR” = Low Copy Repeat.
8) Annotations of molecular markers/DNA-probes used for FISH:
- “marker+” : normal copy number; n=2. [in case of an inv dup chromosome: the marker is detected on the supernumerary chromosome]
- “marker-“ : marker deleted; n=1.
[in case of an inv dup chromosome: the marker is not detected on the supernumerary chromosome]
- “marker++” : marker duplicated; n=3. [in case of an inv dup chromosome: two copies of the marker are detected on the supernumerary chromosome]
- “markerA*BP*markerB” : breakpoint is flanked by markers A and B.
- “Marker (spanning BP)” : marker spans the breakpoint.
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
Chromosome-1
Band
Karyotype
1pter –
1p36.33
46,X?,del(1)(p36.33)
1pter –
1p36.3
46,XX, der(1)t(1;18)(p36.3;q23)
leading to
dup(18)(q23→qter) and del(1)(p36.3)
46, XY,t(1;12)(p36.2;q24.31)mat
1pter –
1p36.2
1p35.3
Cytogenetic Region Of
Gain(+) No.
Interest (CROI) and probe Loss(-) of
references.
Bal.(=) cases
Pter – 2.30 Mb
1
Rating
Pheno type
Comment
**
(Patil et al. 2004)
Array-CGH (PRKCZ-)
Pter – 7.10 Mb
-
1
*
Del(1)(q36)syndrome.
See chromosome 18.
(Lennon et al. 2004)
+
1
*
(Stipoljev and Gjergja
2004)
=
1
*****
Mother no ASD.
See chromosome 12.
See chromosome 15.
=
1
**
See chromosome 2.
(Edelmann et al. 2003)
=
1
****
Three relatives with same
(Yan et al. 2000;
t(1;7) without ASD, one with Gordon et al. 1994)
language delay.
See chromosome 7.
(approximate)
Pter – 15.60 Mb
(approximate)
46,XY,t(1;15)(p35.3;q24.2)
27.70 – 30.00 Mb
(approximate)
1p31
Reference
46,X?,t(1;2)(p31;q21).
60.10 – 84.60 Mb
(Castermans et al.
2003)
(approximate)
1p22
46,XY,t(1;7)(p22;q21)pat
84.60 – 94.50 Mb
(approximate)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
1p22.1
1q42 –
1qter
1q43 –
1qter
1qter
46,XY,-1,-7,-21,t(1;7;21)
(1qter→1p22.1::21q22.3→21qter;7pter
→7q11.23::7q36.1→7qter;
21pter→21q22.3::7q36.1→
7q11.23::1p22.1→1pter)de novo
46,XX,del(1)(q42)
91.70 – 94.50 Mb
=
1
****
219.80 – 245.52 Mb -
1
*
(Halal et al. 1990)
3
**
(Murayama et al. 1991)
1
*
(approximate)
See chromosomes 7 and
21.
(Lopreiato and
Wulfsberg 1992)
(approximate)
46,XX,del(1)(q43)
232.90 – 245.52 Mb (approximate)
46,XX,der(6)t(1;6)(q44;qter)
239.50 – 245.52 Mb +
Ish telomeric probes, (approximate)
See chromosome 6.
(Font-Montgomery et
al. 2004)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
Chromosome-2
Band
Karyotype
2p21.3
46,XX,t(X;2)(p11.4;p21.3)
Cytogenetic Region Of
Gain(+) No.
Interest (CROI) and probe Loss(-) of
references.
Bal.(=) cases
41.70 – 47.70 Mb
=
1
Rating
Pheno type
Comment
Reference
*
See chromosome X.
(Zemni et al. 2000)
BAC maps to 2p12.
See chromosome 18.
Father no ASD.
See chromosomes 3 and
15
Father no ASD.
See chromosomes 3 and
15
See chromosome 1.
(Castiglia et al. 2004)
(approximate)
2p12
46,XY,t(2;18)(p12;q11.2)
78.39 – 78. 53 Mb
=
1
*
=
1
*****
108.70 – 113.90 Mb =
1
*****
1
**
1
*****
1
*****
RP11-798J16 (spanning BP)
2p11
2q13
2q14 –
2q21
2q24.3
83.30 – 93,40 Mb
46,XY,inv(2)(p11q13)pat
3q+de novo
(approximate)
46,XY,inv(2)(p11q13)pat,
3q+de novo
(approximate)
46,X?,t(1;2)(p31;q21).
Leading to del(2)(q)
46,XX,t(2;5)(q24.3;q23.2),
del(6)(q21q21)
2q32.1 – 46,XY,del(2)(q32.1q32.2) or
(q32.2q32.3)
2q32.3
128.07 – 138.44 Mb -
(Konstantareas and
Homatidis 1999)
(Konstantareas and
Homatidis 1999)
(Edelmann et al. 2003)
ish(RP11270M20+, RP11314L11-)
BAC RP11171B14( spanning distal
BP)
167.83 – 168.01 Mb =
RP11-681B22 (spanning BP)
182.80 – 197.30 Mb -
Bac maps to 2q24.3.
(Gribble et al. 2005)
See chromosomes 5 and 6.
(Gallagher et al. 2003)
(approximate)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
2q34
46,XX,del(2)(q34)
205.86 – 217.71 Mb -
1
*****
(Pescucci et al. 2003)
1
*****
1
****
(Lucchese, Takahashi,
and Miles 2003)
1
**
(Patil et al. 2004)
1
***
(Stein et al. 1992)
1
****
1
*****
(Ghaziuddin and
Burmeister 1999)
1
*****
(Ghaziuddin and
Burmeister 1999)
1
*
(Conrad et al. 1995)
-
1
*****
(Smith et al. 2001;
Smith et al. 2003)
236.50 – 243.02 Mb -
1
**
(Lukusa et al. 2004)
1
*****
(Wolff et al. 2002)
2
**
(Patil et al. 2004)
AFM224ZG5+, D2S155-, D2S137-,
D2S301+
2q36
46,XY,t(2;8)(q36;q21.3)
222.63 – 226.20 Mb D2S339+, D2S2323-, D2S351-,
D2S2204+
~4 Mb deletion at BP in 2q36.
2q37.1 –
2qter
2q37.1 –
2qter
2q37 –
2qter
2q37 –
2qter
46,X?,del(2)(q37.1)
2q37 –
2qter
2q37.2 –
2qter
2q37.2 –
2qter
2q37.3 –
2qter
2q37.3 –
2qter
2q37.3 –
2qter
46,XY,del(2)(q37)
230.80 – 243.02 Mb -
Probes map to 2q36. See
chromosome 8.
(approximate)
46,X?,del(2)(q37.1)
230.80 – 243.02 Mb -
(Borg et al. 2002)
(approximate)
46,X?,der(2)t(2;?)(q37;?)
230.80 – 243.02 Mb (approximate)
46,XY,der(2)t(2;6)(q37;p23)mat
230.80 – 243.02 Mb (approximate)
230.80 – 243.02 Mb (approximate)
46,XY,del(2)(q37.2
235.40 – 243.02 Mb (approximate)
46,X?,del(2)(q37.2)
235.40 – 243.02 Mb -
Mother same t(2;6) but no
ASD.
See chromosome 6.
(Burd et al. 1988)
(approximate)
46,XX,del(2)(q37.3)
235.74- 243.02 Mb
ish(RP11-367B19+, RP11-110K9-)
46,XX,del(2)(q37.3)
ish(RP11-680O16+, RP11-20F21-)
46,XY,del(2)(q37.3)
2q37.3 – 46,X?,del(2)(qter)
2qter
236.95 – 243.02 Mb ish(D2S1972+, D2S447-, D2S2986)
237.10 – 243.02 Mb Array CGH (D2S447-)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
2q37.3 – 46,X?,del(2)(q37.3)
2qter
237.10 – 243.02Mb -
1
*
(Wenger et al. 2004)
ish(D2S447-,D2S2986-)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
Chromosome-3
Band
Karyotype
3p24
46,XY,t(3;6;9;10;14)
(p24;q21;p21;p14;q12)
3p24.3 – 46,XY,inv,dup,del(3)
(p21.1;p24.3;p12.3; q21.1)
3p21.1
(pter→p21.1::p24.3→p21.1::q21.1→p1
2.3::q22→qter)
3p21.1 – 46,XY,inv,dup,del(3)
(p21.1;p24.3;p12.3; q21.1)
3p12.3
(pter→p21.1::p24.3→p21.1::q21.1→p1
2.3::q22→qter)
3q21.1 – 46,XY,inv,dup,del(3)
3q22
(p21.1;p24.3;p12.3; q21.1)
(pter→p21.1::p24.3→p21.1::q21.1→p1
2.3::q22→qter)
3q25
46,XY,del(3)(q25q25)
Cytogenetic Region Of
Interest (CROI) and
marker references.
Gain(+)
Loss(-)
Bal.(=)
=
No.
Rating
of
Pheno cases type
Comment
Reference
1
***
See chromosomes 6,9,10
and 14.
(Lespinasse et al.
2004)
+
1
*****
See chromosomes. 5,16,
17
(Mariner et al. 1986)
-
1
*****
See chromosomes. 5,16,
17
(Mariner et al. 1986)
123.30 – 140.40 Mb -
1
*****
See chromosomes. 5,16,
17
(Mariner et al. 1986)
1
**
16.40 – 32.20 Mb
(approximate)
M-Fish
Complex apparently balanced
rearrangement
16.40 – 54.40 Mb
(approximate)
52.30 – 79.90 Mb
(approximate)
(approximate)
150.40 – 162.20 Mb -
(Slavotinek et al. 1997)
(approximate)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
3q25
46,XY,t(3;4)(q25;q27) mat
150.40 – 162.20 Mb =
1
***
1
*****
(approximate)
3q?
46,XY,inv(2)(p11q13)pat,
3q+de novo
Not further specified
+
Mother no ASD.
(Medne et al. 2003)
(Pers. comm. Medne)
See chromosome 4.
Father no ASD.
(Konstantareas and
See chromosomes 2, 13,15 Homatidis 1999)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
Chromosome-4
Band
Karyotype
4pter –
4p12
4pter –
4p14
4pter –
4p16
4p15.3
46,XY,der(4)?t(4;4)(p12q28)
Cytogenetic Region Of
Gain(+) No.
Interest (CROI) and probe Loss(-) of
references.
Bal.(=) cases
Pter – 48.90 Mb
+
1
Rating
Pheno type
Comment
Reference
*
(Pers. comm. Medne)
(Medne et al. 2003)
(Pers. comm. Medne)
See chromosome 8.
See chromosome 15.
(Medne et al. 2003)
2 Brothers and mother
same inv(4) but no ASD.
2 Brothers and mother
same inv(4) but no ASD.
(Choufani et al. 2003)
ish(4ptel++,4qtel-)
46,XX,der(8)t(4;8)(p14;p21)
Pter – 41.10 Mb
+
1
*****
+
1
****
=
2
**
=
2
**
+
1
****
=
2
****
101.40 – 108.00 Mb =
1
**
(approximate)
47,X?,+der(15)t(4;15)(p16;q13),
Pter – 11.00 Mb
(approximate)
46,XY,inv(4)(p12p15.3)mat
11.90 – 12.39 Mb
D4S3036*BP*D4S2906
4p12
46,XY,inv(4)(p12-p15.3)mat
45.77 – 46.16 Mb
D4S1536*BP*D4S396
4p13 –
4p12
4q21.3
46,XY,dup(4)(p12p13)
41.10 – 48.90 Mb
(approximate)
46,XY,t(4;12)(q21.3;q15)mat
87.30 – 88.40 Mb
(approximate)
4q24
46,XY,t(4;16)(q24;p13.3)
Monozygotic twins.
Mother no ASD.
See chromosome 12.
See chromosome 16
(Lucchese, Takahashi,
and Miles 2003)
(Choufani et al. 2003)
(Sabaratnam, Turk,
and Vroegop 2000)
(Nasr and Roy 2000)
(Gilling et al. 2003)
(approximate)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
4q27
46,XY,t(3;4)(q25;q27) mat
121.10 – 124.30 Mb =
1
***
1
*
(Medne et al. 2003)
1
**
(Smith et al. 2003)
1
*****
(Ramanathan et al.
2004)
(approximate)
4q28 –
46,XY,der(4)?t(4;4)(p12q28)
4qter
4q31.3 – 46,X ?,del(4)(q31.3;q34)
4q34
4q31.3 – 46,XY,del(4)(q31.3q33)
4q33
124.30 – 191.11 Mb -
Mother no ASD.
(Pers. comm. Medne)
See chromosome 3
(Medne et al. 2003)
Ish (4ptel++,4qtel-)
152.00 – 183.60 Mb AMPA-, CPE-,GLRA3(approximate)
158.08 – 177.32 Mb ish(RP11-90K3+, RP11-704A20-,
RP11-272N13-, RP11-79K2+)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
Chromosome-5
Band
Karyotype
5pter –
5p14
5pter –
5p15
5pter –
5p15.3
5pter –
5p15.33
5pter –
5p15.33
5p14.2 –
5p15.1
5p13.3
46,XY,del(5)(p14)
Cytogenetic Region Of
Gain(+) No.
Interest (CROI) and probe Loss(-) of
references.
Bal.(=) cases
Pter – 29.30 Mb
1
Rating
Pheno type
Comment
Reference
****
cri-du-chat.
(Cantu et al. 1990)
(approximate)
46,XY,del(5)(p15)
Pter – 18.50 Mb
-
1
****
cri-du-chat.
(Cantu et al. 1990)
-
1
****
see chromosome Y
(Vostanis et al. 1994)
-
1
***
=
1
***
Mother no ASD.
(Tranebjaerg and Kure
1991)
+
1
*****
(Keller et al. 2003)
=
1
***
Mother no ASD.
See chromosome 15.
Mother no ASD.
=
1
*****
See chromosome 13
=
1
***
See chromosome 6
(approximate)
45,X,psu dic(Y;5)(q12;p15.3)
Pter – 9.90 Mb
(approximate)
46,XY,del(5)(p15.33)
Pter – 4.50 Mb
(Stathopulu, Ogilvie,
and Flinter 2003)
ish(5ptel-,D5S23+)
46,XY,inv(5)(p13.3p15.33)mat
Pter – 4.50 Mb
(approximate)
46,XY,dup(5)(p?14.2p?15.1)mat
15.10 – 24.70 Mb
(approximate)
46,XY,inv(5)(p13.3p15.33)mat
29.20 – 34.40 Mb
(approximate)
5q12.1
46,XY,t(5;13)(q12.1;q13.2)
58.90 – 63.00 Mb
(approximate)
5q13
46,XY,t(5;6)(q13;p23)
66.70 – 76.90 Mb
(Tranebjaerg and Kure
1991)
(Castermans et al.
2003)
(Li et al. 1993)
(approximate)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
5q14
46,XX,t(5;7)(q14;q34)mat
76.90 - 91.90 Mb
=
1
*****
=
1
*****
-
1
***
124.01 – 124.18 Mb =
1
*****
See chromosomes 2 and 6. (Gribble et al. 2005)
1
*****
See chromosomes 8 and
17.
(Zwaigenbaum,
Heshka, and Xu 2004)
1
*****
See chromosome 18.
1
**
See chromosome 18.
(Kroisel et al. 2004;
Windpassinger et al.
2002)
(Bugge et al. 2000;
Gilling et al. 2003)
(approximate)
5q14
46,XY,t(5;7)(q14;q31.31)
76.90 – 91.90 Mb
Mother / 2 sisters same
t(5;7), no ASD.
See chromosome 7.
See chromosome 7.
(approximate)
5q15 –
5q22.3
46,XX,del(5)(q15q22.3)
5q23.2
46,XX,t(2;5)(q24.3;q23.2),
del(6)(q21q21) denovo
46,XY,t(5;8;17)(q31.1;q24.1;q21.3)
5q31.1
91.90 – 115.20 Mb
RP11-436H11(spanning BP)
132.20 – 137.20 Mb =
46,XY,t(5;18)(q33.1;q12.1)
149.80 – 152.70 Mb =
(approximate)
5q34
(Cheung et al. 2001;
Scherer et al. 2003;
Vincent et al. 2002;
Vincent et al. 2003)
(Barber et al. 1994)
(approximate)
MCC-, APCGenomic Southern Blot.
(approximate)
5q33.1
(Tentler et al. 2001)
46,XX,t(5;18)(q34;q12)
159.90 – 168.40 Mb =
(approximate)
5p?
46,XY,5p+
Not further specified
?
1
*****
5?
46,XX,t(5;11)(?;q?)
Not further specified.
=
1
***
(Mariner et al. 1986)
See chromosome 11
(Ritvo et al. 1990)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
Chromosome-6
Band
Karyotype
6pter –
6p23
6p23
46,XY,der(2)t(2;6)(q37;p23)mat
Cytogenetic Region Of
Gain(+) No.
Interest (CROI) and probe Loss(-) of
references.
Bal.(=) cases
Pter – 15.30 Mb
+
1
Rating
Pheno type
Comment
Reference
****
Mother no ASD.
See chromosome 2
See chromosome 5
(Burd et al. 1988)
(approximate)
46,XY,t(5;6)(q13;p23)
13.50 – 15.30 Mb
=
1
***
(Li et al. 1993)
=
1
*****
Father no ASD.
See chromosome 7.
(Scherer et al. 2003;
Vincent et al. 2003;
Choufani et al. 2004)
105.10 – 114.50 Mb =
1
***
See chromosomes 3,9,10
and 14.
(Lespinasse et al.
2004)
1
*****
See chromosome 2 and 5.
(Gribble et al. 2005)
1
***
1
*
(approximate)
6p12
46,XY,t(6;7)(p12;q22.1)pat
46.30 – 57.50 Mb
(approximate)
6q21
6q21
46,XY,t(3;6;9;10;14)
(p24;q21;p21;p14;q12)
46,XX,t(2;5)(q24.3;q23.2),
del(6)(q21q21)
6q25.1 – 46,XY,del(6)(q25.1q25.3)
6q25.3
6q27 –
46,XX,der(6)t(1;6)(q44;q27)
6qter
(approximate) M-Fish
Complex apparently balanced
rearrangement
106.04 – 108.21 Mb RP3-454N4, RP11-35D6 (spanning
BP) Array-CGH
152.22 –161.00 Mb. -
(Sukumar et al. 1999)
ish(ESR+,TBP+).
164.50 – 170.98 Mb Ish subtelomeric probes.
See chromosome 1.
(Font-Montgomery et
al. 2004)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
Chromosome-7
Band
Karyotype
7pter –
7p21
46,XY,del(7)(p21)inv(7)(p13;p21)
7pter –
7p21
7p22.2
47,XY,+der(21)t(7;21)(p21; q21.3)mat
Cytogenetic Region Of
Gain(+) No.
Interest (CROI) and probe Loss(-) of
references.
Bal.(=) cases
Pter – 20.70 Mb
1
Rating
Pheno type
****
Pter – 18.16 Mb
+
1
**
-
2
*****
-
1
*****
Family AU098. One sib with (Yu et al. 2002)
ASD but without the del(7).
-
1
*****
Family AU026. One sib with (Yu et al. 2002)
same del(7) and “broader
phenotype”.
+
1
****
D7S507+, D7S2474+, D7S488-.
46,X ?,del(7)(p22.2p22.2)pat
4.13 – 4.34 Mb
46,X ?,del(7)(p22.2p22.2)pat
4,21 – 4,34 Mb
(RS2005745+, D7S472+ D7S517-,
RS975926+)
Deletion size ~96 Kb
One entry with AU098 / AU044
7p22.2
46,X ?,del(7)(p22.2p22.2)mat
4,21 – ?4,45 Mb
(RS2005745+, D7S472+ D7S517-,
RS975926-)
Deletion size ~240 Kb assumed
One entry with AU098 / AU044
7p11.2 – 46,XY,dup(7)(p14.1p11.2)
7p14.1
37.00 – 56.90 Mb
Reference
(Herder 1993; Gillberg
1998)
(approximate)
4,13 – 4,34 Mb (RS2005745+,
D7S472-, D7S517-, RS975926+):
Deletion size ~183 Kb.
One entry with AU098 / AU026
7p22.2
Comment
Mother no ASD.
See chromosome 21
Family AU044. Two sibs
with ASD, One sib with
deletion, but without ASD.
(Ahlbom et al. 2003)
(Yu et al. 2002)
(Wolpert et al. 2001)
(approximate)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
7p13
46,XY,del(7)(p21)inv(7)(p13;p21)
43.10 – 47.10 Mb
=
1
****
(Herder 1993; Gillberg
1998)
=
1
*****
(Warburton et al. 2000)
=
2
**
Monozygotic twins. See
chromosome 20.
(Sultana et al. 2002;
Sultana et al. 2003)
=
1
****
See chromosomes 1 and
21.
(Lopreiato and
Wulfsberg 1992)
-
5
*****
Williams Syndrome.
(Verloes et al. 2004)
=
1
****
See chromosome 12.
(Bugge et al. 2000;
Lauritsen et al. 1999)
-
2
*****
Family AU018
(Yu et al. 2002)
=
1
****
(Yan et al. 2000;
Gordon et al. 1994)
=
1
*****
=
1
*****
Three relatives with same
t(1;7) without ASD, one with
language delay.
See chromosome 1.
Mother and twin sib same
inv(7), no ASD.
(Pers. comm. Medne)
Father no ASD.
See chromosome 6.
=
3
Case1,2: Mother no ASD
*****
(Pers. comm. Skaar)
Case 3: *
(approximate)
7p12.2
46,XY,inv(7)(p12.2;q31.3)
49.80 – 50.80 Mb
(approximate)
7q11.2
46,X ?,t(7;20)(q11.2;p11.2)
68.81 – 69.03 Mb
(Exon 2 AUTS2)*bp* (Exon 3
AUTS2)
7q11.23
7q11.23
46,XY,-1,-7,-21,t(1;7;21)
(1qter→1p22.1::21q22.3→21qter;7pter
→7q11.23::7q36.1→7qter;
21pter→21q22.3::7q36.1→
7q11.23::1p22.1→1pter)de novo
46,X_,del(7)(q11.23q11.23)
71.60 – 77.20 Mb
(approximate)
71.81 – 73.67 Mb
(approximate)
Williams Syndrome critical region
7q21
46,XY,t(7;12)(q21;q15)
77.20 – 97.60 Mb
(approximate)
7q21.13
46,XY,del(7)(q21.13q21.13)pat
88.07 – 88.17 Mb
D7S630-, RS1016807+
7q21
46,XY,t(1;7)(p22;q21)pat
89.20 – 89.55 Mb.
D7S2660*BP*D7S1641
7q22.1
46,XX,inv(7)(q22.1q34)mat
97.60 – 103.40 Mb
(approximate)
7q22.1
46,XY,t(6;7)(p12;q22.1)
97.82 – 97.98 Mb
RP11-157M10(spanning BP)
7q22
46,XY,inv(7)(q22q31.1)mat
98.84 – 99.04 Mb
RP11-316A24(spanning BP)
(Medne et al. 2003)
(Scherer et al. 2003;
Vincent et al. 2003;
Choufani et al. 2004)
(Ashley-Koch et al.
1999; Skaar et al.
2003)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
7q31.1
46,XY,inv(7)(q22q31.1)mat
108.40 –108.58 Mb =
3
1
Case1,2: Mother no ASD
*****
(Pers. comm. Skaar)
Case 3: *
*****
See chromosome 11.
1
*****
1
*****
1
***
1
*****
1
*****
1
*****
1
****
RP11-21G9(spanning distal BP)
7q31.2
46,XY,t(7;11)(q31.2;q25)
114.60 – 114.61 Mb =
RP11-505F9 (spanning BP)
7q31.3
46,XY,t(7;13)(q31.3;q21)
116.18 – 116.46 Mb =
See chromosome 7.
(Exon 9 RAY1)*bp* (Exon 10
RAY1)
7q31.3
46,XY,inv(7)(p12.2;q31.3)
116.90 – 120.33 Mb =
(Ashley-Koch et al.
1999; Skaar et al.
2003)
(Vincent et al. 2003;
Scherer et al. 2003)
(Vincent et al. 2000;
Cheung et al. 2001;
Vincent et al. 2003)
(Warburton et al. 2000)
D7S677, CFTR *BP*D7S643
7q31.3
7q31.31
46,XY,t(7;13)(q31.3;q21.3),
inv(11)(p15.3p15.5)pat
46,XY,t(5;7)(q15;q31.31)
117.00 – 125.90 Mb =
(approximate)
118.49 – 119.14 Mb =
D7S2179*BP*D7S1902
7q34
46,XX,t(5;7)(q14;q34)mat
140. 92 –140.93 Mb =
RP5-1154E9 (spanning BP)
T2R3*BP*T2R4
7q34
46,XX,inv(7)(q22.1q34)
137.10 – 143.00 Mb =
(approximate)
7q36.1
46,XY,-1,-7,-21,t(1;7;21)
(1qter→1p22.1::21q22.3→21qter;7pter
→7q11.23::7q36.1→7qter;
21pter→21q22.3::7q36.1→
7q11.23::1p22.1→1pter)
147.30 – 152.00 Mb =
(approximate)
Father no ASD.
See chromosome 13.
Probes map to 7q31.31.
See chromosome 5.
(Gribble et al. 2005)
Mother / 2 sisters same
t(5;7) but no ASD.
See chromosome 5.
Mother and twin sib same
inv(7), no ASD.
(Pers. comm. Medne)
See chromosomes 1 and
21
(Tentler et al. 2001)
(Cheung et al. 2001;
Vincent et al. 2002;
Vincent et al. 2003;
Scherer et al. 2003)
(Medne et al. 2003)
(Lopreiato and
Wulfsberg 1992)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
Chromosome-8
Band
Karyotype
8pter –
8p21
8pter –
8p23
8p23.3
46,XX,der(8)t(4;8)(p14;p21)
Cytogenetic Region Of
Gain(+) No.
Interest (CROI) and probe Loss(-) of
references.
Bal.(=) cases
Pter – 28.90 Mb
1
Rating
Pheno type
Comment
Reference
*****
(Pers. comm. Medne).
See chromosome 4.
(Medne et al. 2003)
(approximate)
46,XX,del(8)(p23)
Pter – 12.70 Mb
-
1
***
46,X?,del(8)(p23.3p23.3)mat
2.11 – 2.28 Mb
-
2
*****
Family AU058. Two sibs
with ASD.
(Yu et al. 2002)
-
1
*****
Family AU113
(Yu et al. 2002)
-
1
****
-
1
*****
See chromosome 2.
(Borg et al. 2002)
=
1
*****
See chromosome X.
(Ishikawa-Brush et al.
1997; Bolton et al.
1995)
RS897445+,D8S264-,RS936553+
Deletion size ~ 260 – 283 Kb
One entry with AU113
8p23.3
(Wassink, Piven, and
Patil 2001)
(approximate)
46,X?,del(8)(p23.3p23.3)mat
2.11 – 2.28 Mb
RS897445+,D8S264-,RS936553+
Deletion size ~ 252– 266 Kb
One entry with AU058
8p22
46,XY,del(8)(p22)
12.70 – 19.10 Mb
(Lucchese, Takahashi,
and Miles 2003)
(approximate)
8q21.3
46,XY,t(2;8)(q36;q21.3)
91.49 – 93.09 Mb
D8S1724*BP*D8S270
~0.3 Mb deletion at BP in chr. 8
8q22.1
46,X,t(X;8)(p22.2;q22.1)
97.69 – 99.10 Mb
SDC2*BP*?
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
8q24.1 – 46,XX,?8,der(8)t(8;?)(q24.1;?)
8qter
8q24.1
46,XY,t(5;8;17)(q31.1;q24.1;q21.3)
117.70 – 146.27 Mb -
1
*****
1
*****
1
*****
2
*****
Family AU141.
Sibs.
(Yu et al. 2002)
1
*****
Family AU142.
One sib with deletion and
“broader phenotype”.
(Yu et al. 2002)
2
*****
Family U02.
(Yu et al. 2002)
Sibs. Two sibs with deletion
but no ASD.
1
***
(Ritvo et al. 1990)
1
****
(Kielinen et al. 2004)
(approximate)
117.70 – 127.30 Mb =
(approximate)
8q24.23
46,X?,del(8)(q24.23q24.23)pat
137.10 – 137.99 Mb D8S272Deletion size ~ 192 Kb
One entry with AU141 / AU142 /
U02.
8q24.23
46,X?,del(8)(q24.23q24.23)mat
137.10 – 137.99 Mb D8S272Deletion size ~ 192 Kb
One entry with AU002 / AU142 /
U02.
8q24.23
46,X?,del(8)(q24.23q24.23)mat
137.10 – 137.99 Mb D8S272Deletion size ~ 192 Kb
One entry with AU002 / AU141 /
U02.
8q24.23
46,X?,del(8)(q24.23q24.23)mat
137.10 – 137.99 Mb D8S272Deletion size ~ 192 Kb
One entry with AU002 / AU141 /
AU142.
8p?
8q?
8p?
46,XY,del(8)(p?p?),dup(8)(q?q?)
Not further specified.
"Deletion in middle of 8p"
46,XX,dup(8)(p?p?)
Not further specified
+
+
See chromosomes 5 and
17.
Family AU002.
One sib with deletion but no
ASD, one sib with ASD but
no deletion.
(Weidmer-Mikhail,
Sheldon, and
Ghaziuddin 1998)
(Zwaigenbaum,
Heshka, and Xu 2004)
(Yu et al. 2002)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
Chromosome-9
Band
Karyotype
9pter –
9p24.1
9p22
46,XX,t(9;18)(p24.1;?)
9p21
9p11
Cytogenetic Region Of
Gain(+) No.
Interest (CROI) and probe Loss(-) of
references.
Bal.(=) cases
Pter – 9.00 Mb
1
Rating
Pheno type
Comment
Reference
**
See chromosome 18.
(Telvi et al. 2000)
See chromosome 10 and
18.
See chromosomes 3,6,10
and 14.
(Bugge et al. 2000;
Gilling et al. 2003)
(Lespinasse et al.
2004)
Heterochromatin.
(Pers. comm. Havlovicova)
Heterochromatin.
(Havlovicova et al.
2002)
Heterochromatin.
See chromosome 17.
Heterochromatin.
(Pers. comm. Havlovicova)
(Ho and Kalousek
1989)
(approximate)
46,XX,t(9;18)(p22;q21),
inv(10)(p11q21)
46,XY,t(3;6;9;10;14)
(p24;q21;p21;p14;q12)
46,X ?,inv(9)(p11q12)
14.10 – 19.90 Mb
=
1
**
=
1
***
=
1
****
=
1
*****
=
1
****
=
1
****
=
1
*****
(approximate)
19.90 – 33.20 Mb
(approximate), M-Fish
Complex apparently balanced
rearrangement
44.20 – 50.60 Mb
(approximate)
9p11
46,,XY,inv(9)(p11q12)
44.20 – 50.60 Mb
(Jayakar et al. 1986)
(approximate)
9q12
46,XY,t(9;17)(q12;q21)
59.20 – 67.50 Mb
(approximate)
9q12
46,X ?,inv(9)(p11q12)
59.20 – 67.50 Mb
(approximate)
9q12
46,,XY,inv(9)(p11q12)
59.20 – 67.50 Mb
(Havlovicova et al.
2002)
(Jayakar et al. 1986)
(approximate)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
9q32
46,X?,t(9;15)(q32;q22)
112.00 – 114.80 Mb =
1
**
1
***
(approximate)
9p?
46,XY,del(9)(p?)
Not further specified.
-
See chromosome 15
(Copeland-Yates et al.
2001)
(Ritvo et al. 1990)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
Chromosome-10
Band
Karyotype
10p15.3
–10p14
46,XY,del(10)(p14;15.3)}
10p14
46,XY,t(3;6;9;10;14)
(p24;q21;p21;p14;q12)
10p11.2
Cytogenetic Region Of
Gain(+) No.
Interest (CROI) and probe Loss(-) of
references.
Bal.(=) cases
0.10 – 12.30 Mb
1
Rating
Pheno type
Comment
*****
(Verri et al. 2004)
ish(GATA3-, cosmid 2189B6+)
46,X?,inv(10)(p11.2q21.1)
6.70 – 12.30 Mb
=
1
***
See chromosomes 3,6,9
and 14.
(Lespinasse et al.
2004)
=
1
****
(Pers. comm. Havlovicova)
(Havlovicova et al.
2002)
=
1
**
See chromosomes 9 and
18.
(Bugge et al. 2000;
Gilling et al. 2003)
=
1
*****
Mother no ASD.
(Lauritsen et al. 1999)
=
1
**
(Carlsson et al. 2003)
=
1
****
Heterochromatin.
See chromosome X.
(Pers. comm. Havlovicova)
=
1
**
See chromosomes 9 and
18.
(Bugge et al. 2000;
Gilling et al. 2003)
(approximate), M-Fish
Complex apparently balanced
rearrangement
29.40 – 38.80 Mb
(approximate)
10p11.2
Reference
46,XX,t(9;18)(p22;q21.1),
inv(10)(p11.2q21.2)
10p11.21 46,XY,inv(10)(p11.21;q21.2)mat
29.40 - 38.80 Mb
(approximate)
34.50 – 38.80 Mb
(approximate)
10q11.1
46,XX,t(X;10)(p11.4;q11.1)
40.30 – 41.90 Mb
(approximate)
10q21.1
46,X?,inv(10)(p11.2q21.1)
52.60 – 60.80 Mb
(approximate)
10q21.2
46,XX,t(9;18)(p22;q21.1),
inv(10)(p11.2q21.2)
60.80 – 64.20 Mb
(approximate)
(Havlovicova et al.
2002)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
10q21.2
46,XY,inv(10)(p11.21;q21.2)mat
60.80 – 64.20 Mb
=
1
*****
=
1
*****
-
1
****
Mother no ASD.
(Lauritsen et al. 1999)
(approximate)
10q21.3
46,XY,inv(10)(cen;q21.3)
64.20 – 70.30 Mb
(Castermans et al.
2003)
(approximate)
Prox. BP in centromere.
10q23.2 - 46,XY,del(10)(q23.2;q23.32)mat
10q23.32
86.80 – 94.10 Mb
(approximate)
Mother and two cousins
same del(10) with
developmental speech and
language delay (no ASD).
(Pers. comm. Schimmenti)
(Schimmenti et al.
2004)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
Chromosome-11
Band
Karyotype
11q23 –
11qter
11q23 –
11qter
11q24 –
11qter
47,XX,+der(22)t(11;22)(q23;q11)
11q25
46,XY,t(7;11)(q31.2;q25)
Cytogenetic Region Of
Gain(+) No.
Interest (CROI) and probe Loss(-) of
references.
Bal.(=) cases
110.00 – 134.45 Mb +
1
Rating
Pheno type
Comment
Reference
***
See chromosome 22
(Tranebjaerg and
Kure 1991)
2
*
Siblings.
See chromosome 12.
(Lukusa et al. 2003)
1
****
1
*****
See chromosome 7.
1
***
See chromosome 5.
(approximate)
46,X_,der(11)t(11;12)(q23;q24.1)mat
110.00 – 134.45 Mb (approximate)
46,X?,del(11)(q24)
121.20 –134.45 Mb -
(Lucchese,
Takahashi, and Miles
2003)
(approximate)
130.30 – 134.45 Mb =
(approximate)
11q?
46,XX,t(5;11)(?;q?)
Not further specified.
=
(Vincent et al. 2003;
Scherer et al. 2003)
(Ritvo et al. 1990)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
Chromosome-12
Band
Karyotype
12q15
46,XY,t(4;12)(q21.3;q15)mat
Cytogenetic Region Of
Gain(+) No. of
Interest (CROI) and probe Loss(-) cases
references.
Bal.(=)
66.10 – 70.10 Mb
=
2
Rating
Comment
Pheno type
Reference
****
(Nasr and Roy 2000)
(approximate)
12q15
46,XY,t(7;12)(q21;q15)
66.10 – 70.10 Mb
=
1
****
107.50 – 132.45 Mb +
2
*
2
**
1
*
Monozygotic twins
Mother no ASD.
See chromosome 4.
See chromosome 7.
(approximate)
12q24.1 46,X_,der(11)t(11;12)(q23;q24.1)mat
– 12qter
(approximate)
12q24.3 46,X_,der(22)t(12;22)(q24.3;q13.3)mat
–12qter
(approximate)
12q24.31 46,XY,t(1;12)(p36.2;q24.31)mat
119.30 – 132.45 Mb +
119.30 – 125.40 Mb =
(approximate)
Sibs.
See chromosome 11.
Sibs.
See chromosome 22.
Mother no ASD.
See chromosome 1.
(Bugge et al. 2000;
Lauritsen et al. 1999)
(Lukusa et al. 2003)
(Rodriguez et al. 2003)
(Stipoljev and Gjergja
2004)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
Chromosome-13
Band
Karyotype
13q13.2
46,XY,t(5;13)(q12.1;q13.2)
Cytogenetic Region Of
Gain(+) No.
Interest (CROI) and probe Loss(-) of
references.
Bal.(=) cases
33.50 – 33.55 Mb
=
1
Rating
Pheno type
Comment
Reference
*****
See chromosome 5
(Castermans et al.
2003)
NBEA(spanning BP)
13q13.2– 46,XY,del(13)(q13.2;q14.1)
13q14.2
13q14 –
13q22
13q21
46,XY,del(13)(q14q22)
33.13 – 43.72 Mb
-
1
*****
(Smith et al. 2002;
Smith et al. 2003)
-
1
****
(Steele et al. 2001)
=
1
*****
See chromosome 7.
(Vincent et al. 2000;
Cheung et al. 2001;
Vincent et al. 2003)
=
1
***
Father no ASD.
See chromosome 7.
(Gribble et al. 2005)
-
1
**
(Bottani et al. 1991)
103.70 – 114.14 Mb -
1
***
(Wassink et al. 2004)
1
**
ish(RP11-37L2+, RP11-218I21-,
RP11-160G19-, D13S291+)
47.95 – 77.90 Mb
ish(RB1+)
46,XY,t(7;13)(q31.3;q21)
53.18 – 57.22 Mb
HTR2A*BP*D13S800
YAC925E11, YAC857H4 (spanning
BP)
13q21.3
46,XY,t(7;13)(q31.3;q21.3),
inv(11)(p15.3;p15.5)pat
13q32.3– 46,XY,del(13)(q32.3q33.2)
13q33.2
13q33.2– 46,XY,del(13)(q33.2;q34)
13q34
13q34 – 46,XY.ish der(18) t(13;18)(q34;q23)
13qter
70.95 – 71.12 Mb
RP11-360I23 (spanning BP)
98.20 – 105.80 Mb
(approximate)
(approximate)
109.10 – 114.14 Mb +
(approximate)
Sib same der(18), no ASD.
(Pers. comm. Medne)
See chromosome 18.
(Medne et al. 2003)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
Chromosome-14
Band
Karyotype
14pter –
14q22
14q12
47,der(14)t(14;?)(q22;?)
Cytogenetic Region Of
Gain(+) No.
Interest (CROI) and probe Loss(-) of
references.
Bal.(=) cases
Pter – 50.10 Mb
+
1
Rating
Pheno type
Comment
***
(Wassink, Piven, and
Patil 2001)
(approximate)
46,XY,t(3;6;9;10;14)
(p24;q21;p21;p14;q12)
24.30 – 32.40 Mb
Reference
=
1
***
See chromosomes 3,6,9
and 10.
(Lespinasse et al.
2004)
=
1
*****
See chromosome 16.
(Castermans et al.
2003)
=
1
****
See chromosome 18.
(Mehta et al. 2000)
=
1
***
See chromosome 16.
(Tranebjaerg and
Kure 1991; Bugge et
al. 2000)
100.40 – 106.37 Mb -
1
****
See chromosome 21.
(Merritt et al. 2004)
1
**
(approximate), M-Fish
Complex apparently balanced
rearrangement
14q12
46,XY,t(14;16)(q12;q24.3)
24.30 – 32.40 Mb
(approximate)
14q24
46,XY,ins(14;18)(q24;q12.2q21.1)
67.00 – 78.40 Mb
(approximate)
14q32.2
46,XY,t(14;16)(q32.2;q22)
95.40 – 100.40 Mb
(approximate)
14q32.3– 45,XX,der(14)t(14;21)
14qter
(q32.3;q11.2)
14q32.33 46,X?,dup(14)(qter)
– 14qter
ish(WCP14+, WCP21+).
103.10 – 106.37 Mb +
(Patil et al. 2004)
D14S308++
CGH Array
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
Chromosome-15
Band
Karyotype
15pter –
15q11.2
47,XY,+inv dup(15)
(pter>q11.2 : :q11.2>pter)
Cytogenetic Region Of
Gain(+) No.
Interest (CROI) and probe Loss(-) of
references.
Bal.(=) cases
Pter – 20.46 Mb
++
1
Rating
Pheno type
Comment
Reference
**
(Hou and Wang 1998)
ish(D15Z1++, D15S11-, SNRPN-)
LCR1
15pter –
15q12
47,XX,+inv dup(15)
(pter>q12 : :q12>pter)
15pter –
15q12
47,XY,+inv dup(15)
(pter>q12 : :q12>pter)
Pter – 23.24 Mb
++
1
**
(Hou and Wang 1998)
++
1
**
(Hou and Wang 1998)
ish(D15Z1++, D15S11++,
SNRPN++, D15S10-, GABRB3-)
Pter – 24.19 Mb
ish(D15Z1++, D15S11++,
SNRPN++, D15S10++, GABRB3-)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
15pter –
15q22
15pter –
15q13.1
Pter – 65.30 Mb
47,XY,+der(15)del(15)(q22)
+
1
***
(Wassink, Piven, and
Patil 2001)
++
2
*
(Cheng et al. 1994)
++
1
**
(Hou and Wang 1998)
+
1
*****
(Schroer et al. 1998)
++
2
*****
++
2
*
(Buoni et al. 2000)
++
1
****
(Estecio et al. 2002;
Silva et al. 2002)
++
6
*****
Maternal origin.
(Borgatti et al. 2001)
++
5
*
Mother no ASD.
(Webb et al. 1998)
++
2
****
(approximate)
47,X?,+Inv dup(15)
(pter>q13.1::q13.1>pter)
Pter – 27.00 Mb
ish(D15Z1++, D15S12++)
LCR3
15pter –
15q13.1
47,XY,+Inv dup(15)
(pter>q13.1 : :q13.1>pter)
15pter –
15q13.1
47,XY,+der(15)del(15)(q13.1)
Pter – 27.00 Mb
ish(D15Z1++, D15S11++,
GABRB3++)
LCR3
Pter – 27.00 Mb
ish(D15S10+, SNRPN+, GABRB3+)
LCR3
15pter –
15q13.1
47,X_,+inv dup(15)
(pter>q13.1::q13.1>pter)
Pter – 27.00 Mb
Maternal origin.
(Filipek et al. 2003)
ish(NDN++, SNRPN++, HERC2++)
LCR3
15pter –
15q13.1
47,X?,+inv dup(15)
(pter>q13.1::q13.1>pter)
Pter – 27.00 Mb
LCR3
ish(D15S10++)
15pter –
15q13.1
47,XX,+inv dup(15)
(pter>q13.1::q13.1>pter)
Pter – 27.00 Mb
ish(D15Z1++ D15S11++
GABRB3++)
LCR3
15pter –
15q13.1
47,X?,+inv dup(15)
(pter>q13.1::q13.1>pter)
Pter – 27.00 Mb
ish(D15Z1?++, D15S11?++,
GABRB3?++, SNRPN?++,
D15s10?++)
LCR3
15pter –
15q13.1
47,X?,+inv dup(15)
(pter>q13.1::q13.1>pter)mat
Pter – 27.00 Mb
ish(D15S11++, D15S97++,
D15S156++)
LCR3
15pter –
15q13.1
47,X_,+inv dup(15)
(pter>q13.1::q13.1>pter)
Pter – 27.00 Mb
(Simic and Turk 2004)
ish(D15S10++, SNRPN++)
LCR3
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
15pter –
15q13.1
47,XX,+inv dup(15)
(pter>q13.1::q13.1>pter)
Pter – 27.00 Mb
++
1
*
++
1
**
+++
2
****
++
1
****
++
4
++
(Maggouta et al.
2003)
ish(D15S13++,
D15S156++,D15S1010-)
LCR3
15pter –
15q13.1
47,XY,+inv dup(15)
(pter>q13.1::q13.1>pter)
Pter – 27.00 Mb
Maternal origin.
ish(GABRB ++, D15S24-)
(Wandstrat et al.
1998)
LCR3
15pter –
15q13.1
47,XY,+der(15)
(pter>q13::q13>cen>q13::q13>pter}
Pter – 27.00 Mb
(Mann et al. 2004)
ish(PCM15++++ WI-9991++++,
GABRB3++++, APBA2-)
LCR3
Hexasomy 15
15pter –
15q13.1
47,XX,+inv dup(15)
(pter>q13.1::q13.1>pter)
Pter – 27.00 Mb
(Baker et al. 1994)
*****
Nieuwe en enige entry.
Wordt nog door Wouter
geverifieerd + parent of
origin
Nb nog in graf verwerken
Maternal origin
2
*
Maternal origin.
(Crolla et al. 1995)
++
1
*****
Maternal origin.
(Schroer et al. 1998)
++
2
*
ish(D15S11++)
LCR3
15pter –
15q13.1
47,XY,+inv dup(15)
(pter>q13.1::q13.1>pter)
Pter – 27.00 Mb
ish(D15S13++,GABRB3++,
D15S9++,D15S11++,D15S13++)
(Gillberg et al. 1991;
Martinsson et al.
1996)
LCR3
15pter –
15q13.1
47,X_,+inv dup(15)
(pter>q13.1::q13.1>pter)
Pter – 27.00 Mb
ish(D15Z1++, D15S11++,
GABRB3++)
LCR3
15pter –
15q13.3
47,XY,+inv dup(15)
(pter>q13.3::q13.3>pter)
Pter – 29.05 Mb
ish(SNRPN++,D15S10++,
GABRB3++, D15S165++,D15S144)
LCR4
15pter –
15q13.3
47,X?,+inv dup(15)
(pter>q13.3::q13.3>pter)
Pter – 29.05 Mb
(Webb et al. 1998)
ish(D15S11++, D15S24++,
D15S165++)
LCR4
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
15pter –
15q13.3
47,XX,+inv dup(15)
(pter>q13.3::q13.3>pter)
Pter – 29.05 Mb
++
1
*****
Maternal origin.
(Wolpert et al. 2000)
Pter – 31.39Mb
++
5
*
(Wisniewski et al.
1979)
Pter – 31.39Mb
++
1
***
(Gener et al. 2004)
++
7
***
(Blennow et al. 1995)
++
1
*****
Maternal origin.
(Kwasnicka et al.
2004)
++
1
**
Maternal origin.
(Wandstrat et al.
1998)
++
1
*****
(Konstantareas and
Homatidis 1999)
+
1
*****
(Konstantareas and
Homatidis 1999)
++
1
*
(Viersbach et al.
1998)
++
2
*****
ish(GABRB3++, D15S217++,
D15S165-)
LCR4
15pter –
15q13.3
15pter –
15q13.3
47,X_,+inv dup(15)
(pter>q13.3::q13.3>pter)
47,XY,+inv dup (15)
(pter>q13.3::q13.3>pter)
15pter –
15q13.3
47,X_,+inv dup(15)
(pter>q13.3::q13.3>pter)
LCR5
Probes and markers not specified.
LCR5
Pter – 31.39Mb
ish(307A12++)
LCR5
rev ish enh(15)
15pter –
15q13.3
47,XY,+inv dup(15)
(pter>q13.3::q13.3>pter)
Pter – 31.39Mb
Probes and markers not specified.
LCR5
15pter –
15q13.3
47,XX,+inv dup(15)
(pter>q13.3::q13.3>pter)
Pter – 31.39Mb
BP close to D15S144
LCR5.
15pter –
15q13.3
47,XX,+inv dup(15)
(pter>q13.3::q13.3>pter)
Pter – 31.39Mb
Tetrasomy 15pter-q13
LCR5.
15pter –
15q13.3
Pter – 31.39Mb
47,XY,+der(15) (pter>q15::p11>pter)
Trisomy 15pter – q15
LCR5.
15pter –
15q13.3
47,XY,+ ?inv dup(15)
(pter>q13.3::q13.3>pter)
15pter –
15q13.3
47,X_,+inv dup(15)
(pter>q13.3::q13.3>pter)
Pter – 31.39Mb
ish(D15Z1++,WCP15+)
LCR5
Pter – 31.39 Mb
Maternal origin.
(Wolpert et al. 2000)
ish(GABRB3++, D15S165++)
LCR5
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
15pter –
15q13.3
47,X_,+inv dup(15)
(pter>q13.3::q13.3>pter)
Pter – 31.39 Mb
++
2
**
Maternal origin.
(Flejter et al. 1996)
++
17
*****
++
1
*****
++
1
*****
Pter – 31.39Mb
+
1
****
Pter – 31.39Mb
++
1
*
++
2
*
(Leana-Cox et al.
1994)
++
1
****
(Cantu et al. 1990)
Pter – 31.39 Mb
++
2
*****
(Gillberg et al. 1991)
Pter – 31.39 Mb
++
1
****
18.94 – 27.00Mb
+
2
***
(Lucchese,
Takahashi, and Miles
2003)
(Repetto et al. 1998)
ish(D15Z1++, GABRB3++,
D15S24++)
LCR5
15pter –
15q13.3
47,X_,+inv dup(15)
(pter>q13.3::q13.3>pter)
Pter – 31.39Mb
(Rineer, Finucane,
and Simon 1998)
Tetrasomy 15pter – q13
LCR5
15pter –
15q13.3
48,XXY,+inv dup(15)
(pter>q13.3::q13.3>pter)
Pter – 31.39Mb
Klinefelter syndrome.
Tetrasomy 15pter – q13
(Rineer, Finucane,
and Simon 1998)
LCR5
15pter –
15q13.3
47,XY,+inv dup(15)
(pter>q13.3::q13.3>pter)
Pter – 31.39Mb
(Hotopf and Bolton
1995)
Tetrasomy 15pter – q13
LCR5
15pter –
15q13.3
47,X?,+der(15)t(4;15)(p16;q13)
15p13 15q13.3
47,XY,+inv dup(15)
(pter>q13.3::q13.3>pter)
See chromosome 4.
LCR5
ish(D15Z1++,D15S1010++)
(Lucchese,
Takahashi, and Miles
2003)
(Grammatico et al.
1994)
LCR5
15pter –
15q13.3
47,X?,+inv dup(15)
(pter>q13.3::q13.3>pter)
Pter – 31.39Mb
ish(D15Z1++,D15S1010++)
LCR5
15pter –
15q13.3
47,XX,+inv dup(15)
(pter>q13.3::q13.3>pter)
Pter – 31.39Mb
Tetrasomy 15pter – q13
Bp 5
15pter –
15q13.3
15pter –
15q13.3
47,XY,+inv dup(15)
(pter>q13.3::q13.3>pter)
47,XY,+inv dup(15)
(pter>q13::q13.3>pter)
15q11.2– 46,XY,dup(15)(q11.2q13.1)
15q13.1
LCR5
LCR5
Maternal origin
ish(D15S12++, D15S24+)
LCR1 – LCR3
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
15q11.2– 46,X_,del(15)(q11.2q13.1)
15q13.1
18.94 – 27.00Mb
-
2
*****
Paternal origin.
Angelman syndrome.
(Steffenburg et al.
1996)
-
1
*****
Paternal origin.
Angelman syndrome.
(Schroer et al. 1998)
+
1
*****
Mother no ASD
(Schroer et al. 1998)
-
1
***
Angelman syndrome?
(Magenis et al. 1990;
Knoll et al. 1990)
-
1
*****
Paternal origin.
(Sabry and Farag
1998)
+
1
*****
Maternal origin.
(Bolton et al. 2001)
+
1
*****
+
1
**
Maternal origin.
(Mao and Jalal 2000)
+
2
*****
Maternal half brothers.
(Thomas et al. 2003)
+
1
*****
Mother no ASD.
(Keller et al. 2003)
ish(D15S63-)
LCR1 – LCR3
15q11.2– 46,XY,del(15)(q11.2;q13.1)
15q13.1
18.94 – 27.00 Mb
ish(D15S10-)
LCR1 – LCR3
15q11.2– 46,XY,dup(15)(q11.2;q13.1)mat
15q13.1
18.94 – 27.00 Mb
ish(D15S10++, SNRPN++,
D15S11++, GABRB3++)
LCR1 – LCR3
15q11.2– 46,XY,del(15)(q112.;q13.1)
15q13.1
18.94 – 27.00Mb
ish(D15S18-, D15S12-)
LCR1 – LCR3
15q11.2– 46,XY,del(15)(q11.2;q13.1)
15q13.1
18.94 – 27.00 Mb
ish(SNRPN-)
LCR1 – LCR3
15q11.2– 46,XY,dup(15)(q11.2q13.1)
15q13.1
18.94 – 27.00 Mb
ish(D15S541++,D15S217++,
D15S1019+)
LCR1 – LCR3
15q11.2– 47,XY,dup(15)(q11.2q13.1)
15q13.1
15q11.2- 46,X_dup(15)(q11.2q13.1)
15q13.1
18.94 – 27.00 Mb
(Rineer, Finucane,
and Simon 1998)
LCR1 – LCR3
18.94 – 27.00 Mb
ish(D15S10++, SNRPN++)
LCR1 – LCR3
15q11.2– 46,XY,dup(15)(q11.2q13.1)mat
15q13.1
18.94 – 27.00 Mb
ish(D15S11++,D15S10++,
GABRB3++)
LCR1 – LCR3
15q11.2– 46,XY,dup(15)(q11.2q13.1)mat
15q13.1
18.94 – 27.00 Mb
ish(D15S10++)
LCR1 – LCR3
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
15q11.2– 46,XY,dup(15)(q11.2q13.1)
15q13.3
18.94 – 27.00 Mb
+
1
*****
(Thomas et al. 2003)
1
***
Mother no ASD.
(Hirsch, Heggie, and
McConnel 1995)
+
1
*
Maternal origin.
(Schinzel et al. 1994)
-
2
***
+
2
*****
+
1
**
+
2
*****
Sibs. Mother no ASD.
(Kashork et al. 2002)
-
1
***
+
3
*****
Paternal origin. Angelman
syndrome.
2 sibs.
Maternal origin.
(Kerbeshian et al.
1990)
(Bolton et al. 2001)
+
1
*****
Mother no ASD.
(Gurrieri et al. 1999)
ish(D15S11++,D15S10++,
GABRB3++)
LCR1 – LCR3
15q11.2– 46,XX,dup(15)(q11.2q13.1)mat
15q13.1
18.94 – 27.00 Mb
ish(D15S11++,
SNRPN++,GABRB3++)
LCR1 – LCR3
15q11.2– 46,XX,der(15)
15q13.3 (pter>q13::q13>q11::q11>qter)
18.94 – 31.39Mb
ish(D15S9+++, D15S12+++)
Triplication 15q11.2 – 15q13.3
LCR1 – LCR5
15q11.2– 46,XY,del(15)(q11.2q13.3)
15q13.3
15q11.2– 46,XY,dup(15)(q11.2q13)
15q13.3
15q11.2– 46,XX,dup(15)(q11.2q13.3)
15q13.3
15q11.2– 46,X_,dup(15)(q11.2q13.3)mat
15q13.3
15q12 – 46,XX,del(15)(q12q13.1)
15q13.1
15q11.2– 46,X_,dup(15)(q11.2q13.1)
15q13.1
18.94 – 31.39Mb
(Wassink, Piven, and
Patil 2001)
Probes not specified.
LCR1 – LCR5
18.94 – 31.39Mb
Maternal half sibs.
(Thomas et al. 2003)
LCR1 – LCR5
18.94 – 31.39Mb
(Akahoshi et al. 2001)
ish(SNRPN++)
LCR1 – LCR5
18.94 – 31.39Mb
LCR1 – LCR5
20.46 – 27.00 Mb
LCR2 – LCR3
20.46 – 27.00 Mb
ish(D15S542+, D15S541+
D15S543++, D15S217++,
D15S1019+)
LCR2 – LCR3
15q11.2- 46,XY,dup(15)(q11.2q13.1)
15q13.1
20.46 – 27.00 Mb
3 alleles for (D15S11, D15S113)
LCR2 – LCR3
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
15q11.2- 46,XY,dup(15)(q11.2q13.1)
15q13.1
20.46 – 27.00
+
1
*
Maternal origin.
(Bundey et al. 1994)
+
1
*****
Paternal origin.
(Smith et al. 2004)
+
2
*****
Sibs.
Mother no ASD.
(Cook, Jr. et al. 1997)
+
1
**
=
1
**
-
1
**
(Smith et al. 2003)
-
1
*****
(Smith et al. 2000)
=
1
*****
+
1
*****
Not further specified.
Not further specified.
=
=
1
**
****
See chromosome 22
See chromosome 22
(Arrieta et al. 1994)
(Chudley et al. 1998)
Not further specified.
=
1
*****
See chromosome 16
(Martin et al. 2003)
ish(D15S11?,
D15S24++,GABRB3++, ACTC+)
LCR2 – LCR3
15q11.2- 46,XX,dup(15)(q11.2q13.1)
15q13.1
20.46 - 27.00 Mb
ish(D15S122++,GABRB3++,D15S1
002++, GABRA5++)
LCR2 – LCR3
15q11.2- 46,X_dup(15)(q11.2q13.1)mat
15q13.1
20.46 - 27.00 Mb
ish(D15S128++, D15S165+).
LCR2 – LCR3
15q11.2
46,XX,dup(15)(q11.2q11.2)
21.36 - 22.67 Mb
(Repetto et al. 1998)
ish(D15S9+, D15S11++, D15S63+)
15q22
46,X?,t(9;15)(q32;q22)
57.00 – 65.30 Mb
See chromosome 9
(approximate)
15q2215q23
15q2315q24.1
15q24.2
46,X?,del(15)(q22q23)
57.00 – 70.40 Mb
(approximate)
46,XX,del(15)(q22q23)
68.18 – 72.22 Mb
ish(TLE3+, PML-, D15S160+)
46,XY,t(1;15)(p35.3;q24.2)
73.10-74.40 Mb
See chromosome 1
(approximate)
15q25.2- 46,XY,add(15)(p11)dup(15)
15q26.3 (q25.2q26.3)
15q?
45,XX,der(15;22)(q10q10)
15q?
45,XY,der(15;22)(q10;q10)
15p?
(Copeland-Yates et al.
2001)
46,XX,t(15;16)(p?;p13.2)
80.32 – 100.34 Mb
(Castermans et al.
2003)
(Bonati et al. 2005)
RP11-94F22*BP*RP11-147K14
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
Chromosome-16
Band
Karyotype
16pter –
16p13.1
16pter –
16p13.3
16p13.2
46,XY,dup(16)(p13.1>pter)
Cytogenetic Region Of Interest
(CROI) and probe references.
Pter – 16.70 Mb
Gain(+)
Loss(-)
Bal.(=)
+
No.
Rating
of
Pheno cases type
1
****
Comment
Reference
=
1
**
See chromosome 4.
(Hebebrand et al.
1994)
(Gilling et al. 2003)
-
1
*****
See chromosome 15.
(Martin et al. 2003)
+
1
**
+
1
*
+
2
****
(Engelen et al. 2002;
Finelli et al. 2004)
+
1
*****
(Mariner et al. 1986)
-
1
***
(Wassink, Piven, and
Patil 2001)
(approximate)
46,XY,t(4;16)(q24;p13.3)
Pter – 6.30 Mb
(approximate)
46,XX,t(15;16)(p?;p13.2)
6.01 – 7.00 Mb
A2BP1(spanning BP)
160 Kb deletion at A2BP1.
16p11.2– 46,XY,dup(16)(p11.2p12)
16p12
16p12.1– 46,XY,dup(16)(p12.1p12.2)
16p12.2
16p11.2– 46,X_,dup(16)(p11.2p12.2)
16p12.2
16q13 –
16q22.3
16q13 –
16q22
46,XX,inv dup(16)
(pter>q22.2::q22.2>q13::q22.3>qt
er)
46,XY,del(16)(q13q22)
16.70 – 34.40 Mb
(approximate)
21.10 – 27.60 Mb
(Carrasco Juan et al.
1997)
(Natacci et al. 2002)
(approximate)
21.35 – 29.61 Mb
RP11-368N21 (spanning prox BP)
RP22-98D10 (spanning dist BP)
55.30 – 73.80 Mb
(approximate)
55.30 – 73.80 Mb
(approximate)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
16q22
46,XY,t(14;16)(q32.2;q22)
63.90 – 73.80 Mb
=
1
***
-
1
**
=
1
*****
See chromosome 14.
(approximate)
16q22.3– 46,XY,del(16)(q22.3;q23.2)
16q23.2
16q24.3– 46,XY,t(14;16) (q12;q24.3)
16qter
71.40 – 80.60 Mb
(approximate)
87.20 – 88.83 Mb
(approximate)
See chromosome 14.
(Bugge et al. 2000;
Tranebjaerg and Kure
1991)
(Monaghan et al.
1997)
(Castermans et al.
2003)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
Chromosome-17
Band
Karyotype
17pter –
17p13.3
17p12 –
17p11.2
17p11.2
46,XY,t(17;19)(p13.3;p11)
Cytogenetic Region Of Interest
(CROI) and probe references.
Pter – 3.20 Mb
Gain(+)
Loss(-)
Bal.(=)
=
No.
Rating
of
Pheno cases type
1
***
Comment
Reference
+
1
**
(Moog et al. 2004)
-
1
*
-
1
***
-
1
*****
(de Almeida, Reis,
and Martins 1989)
(Lockwood et al.
1988)
(Mariner et al. 1986)
-
1
****
(Vostanis et al. 1994)
=
1
****
See chromosome 9
=
1
**
See chromosome 22.
=
1
*****
-
1
***
-
1
****
See chromosomes 5 and 8. (Zwaigenbaum,
Heshka, and Xu 2004)
(Wassink, Piven, and
Patil 2001)
(Kielinen et al. 2004)
(Anneren et al. 1995)
(approximate)
46,XY,dup(17)(p11.2p12)
10.70 – 22.10 Mb
ish(D17S122++,PMP22++)
46,XY,del(17)(p11.2p11.2)
15.90 –22.10 Mb
(approximate)
17p11.2
46,XX,del(17)(p11.2p11.2)
17p11.2
46,XY,del(17)(p11.2p11.2)
15.90 – 22.10 Mb
(approximate)
15.90 – 22.10 Mb
(approximate)
17p11.2
46,XY,del(17)(p11.2p11.2)
17q21
46,XY,t(9;17)(q12;q21)}
15.90 – 22.10 Mb
(approximate)
35.60 – 47.50 Mb
(approximate)
17q21.1
46,XY,t(17;22)(q21.1;q12.2)
35.46 – 35.66 Mb
(Ho and Kalousek
1989)
(Gribble et al. 2005)
RP11-749I16(spanning BP)
17q21.3
17q23 –
17qter
17?
46,XY,
t(5;8;17)(q31.1;q24.1;q21.3)
46,XY,add(17)(q23)
38.20 - 47.50 Mb
(approximate)
50.90 – 78.74 Mb
(approximate)
46,X?,del(17)(?)
Not further specified
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
Chromosome-18
Band
Karyotype
18q11.2
46,XY,t(2;18)(p13;q11.2)
Cytogenetic Region Of Interest
(CROI) and probe references.
20.79 – 21.07 Mb
Gain(+)
Loss(-)
Bal.(=)
=
No.
Rating
of
Pheno cases type
1
*
Comment
Reference
See chromosome 2.
(Castiglia et al. 2004)
=
1
*****
See chromosome 5.
-
1
*
=
1
**
Father same marker, no
ASD.
See chromosome 5.
=
1
****
See chromosome 14.
(Kroisel et al. 2004;
Windpassinger et al.
2002)
(Poissonnier et al.
1992)
(Bugge et al. 2000;
Gilling et al. 2003)
(Mehta et al. 2000)
-
1
*
-
1
***
=
1
**
=
1
****
RP11-958F21*BP*RP11-467C13
18q12.1
46,XY,t(5;18)(q33.1;q12.1)
23.30 – 31.00 Mb
(approximate)
18q12.1 47,XX,del(18)(q12.1q12.3),+mar
–18q12.3
18q12
46,XX,t(5;18)(q34;q12)
23.30 – 41.80 Mb
(approximate)
23.30 – 41.80 Mb
(approximate)
18q12.2
46,XY,ins(14;18)(q24;q12.2q21.1)
31.00 –35.50 Mb
(approximate)
18q12.3 46,XY,del(18)(q12.3q21.1)
–18q21.1
18q21.1– 46,XX,del(18)(q21.1;q22.3)
18q22.3
18q21
18q21.1
46,XX,t(9;18)(p22;q21),
inv(10)(p11q21)
46,XY,ins(14;18)(q24;q12.2q21.1)
35.50 – 48.50 Mb
(approximate)
37.60 – 70.20 Mb
ish(D18S34+, D18S69 -, D18S61-,
D18S58+)
41.80 – 59.80 Mb
(approximate)
41.80 – 48.50 Mb
(Wilson and Al Saadi
1989)
(Gustavsson et al.
1999)
See chromosome 9 and 10. (Bugge et al. 2000;
Gilling et al. 2003)
See chromosome 14.
(Mehta et al. 2000)
(approximate)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
18q21.2– 46,XY,del(18)(q21.2)
18qter
18q21.2– 46,XY,del(18)( q21.2)
18qter
18q23 –
18qter
46,XY.ish der(18)
t(13;18)(q34;q23)
18q23 –
18qter
18q?
18q?
46,XX,der(1)t(1;18)(p36.3;q23)
48.50 – 76.12 Mb
-
4
*****
(Mahr et al. 1996)
-
1
*****
-
1
**
(Seshadri,
Wallerstein, and
Burack 1992)
(Medne et al. 2003)
+
1
*
+
=
1
1
**
****
(approximate)
48.50 – 76.12 Mb
(approximate)
71.30 – 76.12 Mb
(approximate)
71.30 – 76.12 Mb
(approximate)
46,XX,t(9;18)(p24.1;?)
46,XX,inv(18)(q?q?)
Not further specified
Not further specified.
Sib same der(18), no ASD.
(Pers. comm. Medne)
See chromosome 18.
Del(1)(q36)syndrome
See chromosome 1.
See chromosome 18.
(Lennon et al. 2004)
(Telvi et al. 2000)
(Chudley et al. 1998)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
Chromosome-19
Band
Karyotype
19p11
46,XY,t(17;19)(p13.3;p11)
Cytogenetic Region Of Interest
(CROI) and probe references.
26.70 – 28.50 Mb
Gain(+)
Loss(-)
Bal.(=)
=
No.
Rating
of
Pheno cases type
1
***
-
1
Comment
Reference
Heterochromatin.
(Anneren et al. 1995)
(approximate)
19q1219q13.1
46,XX,del(19)(q12q13.1)
40.19 – 46.09 Mb
ish(D19S425+, D19S931-, D19S881-,
D19S223+)
**
(Benke et al. 2004;
Kulharya et al. 1998)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
Chromosome-20
Band
Karyotype
20p11.22 46,XY,(20)(p11.22p11.23)
–
20p11.23
20p11.2 46,X ?,t(7;20)(q11.2;p11.2)
Cytogenetic Region Of Interest
(CROI) and probe references.
11.91 – 19.23 mb
Gain(+)
Loss(-)
Bal.(=)
-
No.
Rating
of
Pheno cases type
1
*****
Comment
=
2
**
-
1
****
Heterochromatin.
Monozygotic twins.
See chromosome 7.
See chromosome 22.
25.69 – 26.00 Mb
BP in duplicated sequence.
45,XX,-22,der(20),
t(20;22)(q13.3;q11.2),
[del(22)(q11.2q11.2)]
(Michaelis et al. 1997)
ish(D20S80+, D20S104-, PCSK2-,
D20S40 +)
(approximate)
20q13.3
–
20qter
Reference
53.50 – 62.44 Mb
(Sultana et al. 2002;
Sultana et al. 2003)
(Carratala et al. 1998)
(approximate)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
Chromosome-21
Band
Karyotype
21pter –
21q21.3
21pter –
21q11.2
21q22.1–
21qter
21q22.3
47,XY,+der(21)t(7;21)(p21;q21.3)
mat.
45,XX,der(14)t(14;21)
(q32.3;q11.2)
46,XY,del(21)(q22.1)
21q?
Cytogenetic Region Of Interest
(CROI) and probe references.
Pter – 30.26 Mb
Gain(+)
Loss(-)
Bal.(=)
+
No.
Rating
of
Pheno cases type
1
**
Comment
Reference
(Ahlbom et al. 2003)
****
Mother no ASD.
See chromosome 7.
See chromosome 14.
-
1
-
1
*
(Pers. comm. Medne)
(Medne et al. 2003)
=
1
****
See chromosomes 1,7.
(Lopreiato and
Wulfsberg 1992)
=
1
****
See chromosome 22.
(Pers. comm. Havlovicova)
(Havlovicova et al.
2002)
ish(D21S226-, D21S145+, D21S215+)
Pter – 15.30 Mb
(Merritt et al. 2004)
ish(WCP14+,WCP21+)
30.50 – 46.94 Mb
(approximate)
46,XY,-1,-7,-21,t(1;7;21)
41.40 – 46.94 Mb
(1qter→1p22.1::21q22.3→21qter; (approximate)
7pter→7q11.23::7q36.1→7qter;
21pter→21q22.3::7q36.1→
7q11.23::1p22.1→1pter)de novo
45,XX,der(21;22)(q10;q10)
Not further specified
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
Chromosome-22
Band
Karyotype
22pter –
22q11
22p11
47,XX,+der(22)t(11;22)(q23;q11)
Cytogenetic Region Of Interest
(CROI) and probe references.
Pter - 24.30 Mb
Gain(+)
Loss(-)
Bal.(=)
+
No.
Rating
of
Pheno cases type
Comment
Reference
1
***
See chromosome 11.
(Tranebjaerg and
Kure 1991)
=
2
**
Heterochromatin.
Sibs. Mother no ASD.
See chromosome X
(Journel et al. 1990)
-
1
****
-
1
***
22q11.2 deletion syndrome
(Kozma 1998)
-
2
****
22q11.2 deletion syndrome
(Eliez et al. 2000)
-
1
****
See chromosome 20
(Carratala et al. 1998)
(approximate)
46,X,t(X,22)(p11.2;p11)mat
6.60 -11.80 Mb
(approximate)
22q11.2
46,X?,del(22)(q11.2q11.2)
16.97 - 20.83 Mb
(Roubertie et al. 2001)
ish(Tuple1 -, ARSA+)
LCRA-LCRD
22q11.2
46,XX,del(22)(q11.2q11.2)
16.97 - 20.83 Mb
ish(D22S75-)
LCRA- LCRD
22q11.2
46,X_,del(22)(q11.2q11.2)
16.97 - 20.83 Mb
ish(D0832-)
LCRA- LCRD
22pter –
22q11.2
45,XX,-22,
der(20)t(20;22)(q13.3;q11.2)
[del(22)(q11.2q11.2]
16.97 - 20.83 Mb
ish(E0472-,F11.18-)
LCRA-LCRD
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
22q11.2
46,X_,del(22)(q11.2q11.2)
16.97 - 20.83 Mb
-
10
****
22q11.2 deletion syndrome
(Niklasson et al. 2001)
-
1
****
=
1
**
-
1
**
(Prasad et al. 2000)
-
1
*****
(Prasad et al. 2000)
-
1
**
(Prasad et al. 2000)
-
5
**
(Manning et al. 2004)
-
17
****
(Phelan et al. 2001)
-
2
**
-
1
*****
(Goizet et al. 2000)
-
1
*****
(MacLean et al. 2000)
-
1
**
-
1
*
(Nair-Miranda et al.
2004)
(Anderlid et al. 2002)
LCRA-LCRD
22q11.2
46,X?,del(22)(q11.2q11.2)
16.97 - 20.83 Mb
(Chudley et al. 1998)
ish(D22S75-)
LCRA-LCRD
22q12.2
46,XY,t(17;22)(q21.1;q12.2)
26.09 – 26.26 Mb
See chromosome 17.
(Gribble et al. 2005)
RP11-46E17 (spanning BP)
22q13.3–
22qter
22q13.3–
22qter ?
22q13.3–
22qter ?
22q13.1–
22qter
46,XX,del(22)(q13.1)
35.80 – 49.55 Mb
(approximate)
46,XX,del(22)(q13.3?)
42.60 – 49.55 Mb
ish(Tuple+, ARSA-)
46,XX,del(22)(q13.3?)
46,X_,del(22)(q13.3q13.3) or
46,X_,del(22)(q13.3)
46,X_,der(22)t(_:22)(_;q13.3)
22q13.3– 46,X_,del(22)(q13.3) or
22qter
46,X_,der(22)t(_:22)(_;q13.3)
22q13.3– 46,X_,der(22)
22qter
t(12;22)(q24.3;q13.3)mat
22q13.3 46,XX,del(22)(q13.3?)
–22qter?
22q13.31 46,XY,r(22)
–22qter
(p11.31q13.31~q13.13)
22q13.33 46,X_,r(22)(p?q13.33)
– 22qter
22q13.33 46,XX,del(22)(q13.33)
–22qter
42.60 – 49.55 Mb
ish(D22S75+, D22S39-)
42.60 – 49.55 Mb
ish(ARSA-), ish(D22S39-)
42.60 – 49.55 Mb
ish(ARSA-)?
42.60 – 49.55 Mb
ish(D22S75+, SHANK3-)
46.51 – 49.55 Mb
Sibs.
See chromosome 12
(Rodriguez et al.
2003)
ish(D22S75+, D22S668+, D22S39-)
46.51 – 49.55 Mb
ish(TUPLE1+, D22S75+, D22S668+, ARSA
-)
47.80 – 49.55 Mb
ish(99K24-)
49.45 – 49.55 Mb
ish(ARSA+)
SHANK3(spanning BP)
100 kb terminal deletion.
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
22q13
46,XY,add(22)(q13)
Not further specified
-
1
***
22q
46,XY,r(22)
Not further specified
-
1
****
22q
45,XX,der(21;22)(q10q10)
Not further specified
=
1
****
22q
45,XX,der(15;22)(q10q10)
Not further specified
=
1
22q
45,XY,der(15;22)(q10q10)
Not further specified.
=
1
(Wassink, Piven, and
Patil 2001)
(Assumpcao Junior
1998)
(Havlovicova et al.
2002)
**
See chromosome 21.
(Pers. comm. Havlovicova)
See chromosome 15.
****
See chromosome 15.
(Chudley et al. 1998)
(Arrieta et al. 1994)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
Chromosome-X
Band
Karyotype
Xpter –
Xp22.3
46,X,der(X)t(X;Y)(p22.3;q11.2)
Xpter –
46,X,del(X)(p22.31 or p22.32)
Pter - 13.00 Mb
Gain(+)
Loss(-)
Bal.(=)
=
No.
Rating
of
Pheno cases type
Comment
1
*****
-
1
*****
Der(X) may be
(Thomas et al. 1999)
preferentially inactivated.
See chromosome Y.
Del(X) may be preferentially (Thomas et al. 1999)
inactivated.
+
1
***
-
1
*****
-
1
*****
Del(X) may be preferentially (Scaglia et al. 2004)
inactivated.
=
1
*****
Normal X inactivated?
See chromosome 8
ish(DXS7104-, DXS1224+)
Pter –10.00 Mb
ish(DXS8051-, DXS7108+)
Xp22.32
Xpter –
Xp22.2
46,dir dup
(X)(pter>p22.3::p22.3>p22.2::p22.
3>qter)mat,Y
Xp22.32 46,X,del(X)(p22.13p22.32)
–
Xp22.13
Xp22.2- 46,X,del(X)(p22.13?;p22.31?)
Xp11.4
Xp22.2
Cytogenetic Region Of Interest
(CROI) and probe references.
46,X,t(X;8)(p22.2;q22.1)
Pter – 17.20 Mb
ish(STS++, ZFX+)
2.58 – 9.39 Mb
ish(DXYS232X+, DX7470-, KALexon9-,
DXS7103+)
11.23 – 39.61 Mb
ish(DXS8090+, DXS1056-, DXS1067-,
DXS1043+)
15.11 – 15.49 Mb
DXS43*BP* DXS197
Reference
Mother no ASD.
(Rao et al. 1994)
Dup(X) may be
preferentially inactivated.
Del(X) may be preferentially (Thomas et al. 1999)
inactivated.
(Ishikawa-Brush et al.
1997; Bolton et al.
1995)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
Xp11.4
46,X,t(X;2)(p11.4;p21.3)
36.71 – 38.38 Mb
=
1
*
Inactivated normal X?
See chromosome 2.
(Zemni et al. 2000)
=
1
**
Inactivated normal X?
See chromosome 10.
(Carlsson et al. 2003)
=
2
**
Sibs. Mother no ASD.
Inactivated normal X?
See chromosome 2.
(Journel et al. 1990)
DXS8090*BP*DXS1069
Xp11.4
46,X,t(X;10)(p11.4;q11.1)
37.82 – 37.99 Mb
RP11-709P23 (spanning BP)
Xp11.22 46,X,t(X,22)(p11.22;p11)mat
49.50 – 54.50 Mb
(approximate)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
Chromosome-Y
Band
Karyotype
Ypter –
Yq11.21
Yp11.2
46,X,idic(Y)(q11.21)
Cytogenetic Region Of Interest
(CROI) and probe references.
Pter – 14.20 Mb
(approximate)
46,X,inv(Y)(p11.2q11.2)
3.30 – 11.20 Mb
Gain(+) No.
Rating
of
Loss(-)
Pheno cases
type
Bal.(=)
Comment
Reference
+
=
1
***
(Wassink, Piven, and
Patil 2001)
2
***
(Li et al. 1993)
=
1
***
=
1
*****
(Wassink, Piven, and
Patil 2001)
(Thomas et al. 1999)
=
2
***
(Li et al. 1993)
=
1
***
-
1
***
-
1
****
(Wassink, Piven, and
Patil 2001)
(Wassink, Piven, and
Patil 2001)
(Vostanis et al. 1994)
(approximate)
Yp11.2
46,X,inv(Y)(p11.2q11.23)
3.30 – 11.20 Mb
(approximate)
Yq11.2 – 46,X,der(X)t(X;Y)(p22.3;q11.2)
Yqter
Yq11.2
Inv(Y)(p11.2;q11.2)
12.40 – 57.70 Mb
ish(DXYS233-)
12.40 – 27.10 Mb
Der(X) may be
preferentially inactivated.
See chromosome X.
(approximate)
Yq11.23
46,X,inv(Y)(p11.2q11.23)
25.20 – 27.10 Mb
(approximate)
Yq11.22 46,X,idic(Y)(q11.21)
1 – Yqter
Yq12 –
46,XY,psu dic(Y;5)(q12;p15.3)
qter
14.20 – 57. 70 Mb
(approximate)
27.10 - 57.70 Mb
see chromosome 5
(approximate)
Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005
References
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partial trisomy 21 and partial trisomy 7p. Ann.Genet. 46 (1):29-35.
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hyperpigmentation. Am.J.Med.Genet. 104 (4):299-302.
3. Anderlid BM et al (2002) FISH-mapping of a 100-kb terminal 22q13 deletion. Hum.Genet. 110 (5):439-443.
4. Anneren G et al (1995) Asperger syndrome in a boy with a balanced de novo translocation: t(17;19)(p13.3;p11).
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