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Patient A is the nearly-full-term fetus of a forty year old female.
Chromosomes were obtained from fetal epithelial cells acquired
through amniocentesis. Click the hyperlink Complete Patient A’s Karyotype.
While completing the karyotype, answer the following question regarding Patient A
1.
2.
3.
4.
5.
The 1st chromosome pictured is the homolog to which chromosome?_______
The 2nd chromosome pictured is the homolog to which chromosome?_______
The 3rd chromosome pictured is the homolog to which chromosome?_______
The 4th chromosome pictured is the homolog to which chromosome?________
The 5th chromosome pictured is the homolog to which chromosome?________
,QWHUSUHWLQJWKHNDU\RW\SH
Lab technicians compile karyotypes and then use a specific notation to characterize the
karyotype. This notation includes the total number of chromosomes, the sex chromosomes,
and any extra or missing autosomal chromosomes. For example, ;< indicates that
the patient has 47 chromosomes, is a male, and has an extra autosomal chromosome 18.
;; is a female with a normal number of chromosomes. ;;< is a patient with an
extra sex chromosome.
$*LYHQWKHLQIRUPDWLRQSURYLGHGDERYH, what notation would you use to characterize
Patient A’s karyotype? _______________
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The next step is to either diagnose or rule out a chromosomal abnormality. In a patient
with a normal number of chromosomes, each pair will have only two chromosomes. Having
an extra or missing chromosome usually renders a fetus inviable. In cases where the fetus
makes it to term, there are unique clinical features depending on which chromosome is affected. Listed below are some syndromes caused by an abnormal number of chromosomes.
$ What diagnosis would you give patient A? Using a highlighter, highlight your diagnosis
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Normal # of chromosomes
patient’s problems are due to something other than an
abnormal number of chromosomes.
Klinefelter’s Syndrome
one or more extra sex chromosomes (i.e., XXY)
Down’s Syndrome
Trisomy 21, extra chromosome 21
Trisomy 13 Syndrome
extra chromosome 13
$ List two symptoms Patient A will possess.
X
Classroom Activities | www.msta-mich.org s
53
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Patient B is a 28 year old male who is trying to identify a cause for his infertility. Chromosomes were obtained from nucleated cells in the patient’s blood. Complete Patient
B’s Karyotype. While completing the karyotype, answer the following question regarding
Patient A
1. The 1st chromosome pictured is the homolog to which chromosome?_______
2. The 2nd chromosome pictured is the homolog to which chromosome?_______
3. The 3rd chromosome pictured is the homolog to which chromosome?_______
4. The 4th chromosome pictured is the homolog to which chromosome?________
5. The 5th chromosome pictured is the homolog to which chromosome?________
6. The 6th chromosome pictured is the homolog to which chromosome?_______
7. The 7th chromosome pictured is the homolog to which chromosome?_______
8. The 8th chromosome pictured is chromosome?_______
,QWHUSUHWLQJWKHNDU\RW\SH
Lab technicians compile karyotypes and then use a specific notation to characterize the
karyotype. This notation includes the total number of chromosomes, the sex chromosomes,
and any extra or missing autosomal chromosomes. For example, 47, XY, +18 indicates that
the patient has 47 chromosomes, is a male, and has an extra autosomal chromosome 18.
46, XX is a female with a normal number of chromosomes. 47, XXY is a patient with an
extra sex chromosome.
%*LYHQWKHLQIRUPDWLRQSURYLGHGDERYH, what QRWDWLRQ would you use to characterize
Patient B’s karyotype? _______________
0DNLQJDGLDJQRVLV
The next step is to either diagnose or rule out a chromosomal abnormality. In a patient
with a normal number of chromosomes, each pair will have only two chromosomes. Having
an extra or missing chromosome usually renders a fetus inviable. In cases where the fetus
makes it to term, there are unique clinical features depending on which chromosome is affected. Listed below are some syndromes caused by an abnormal number of chromosomes.
% What diagnosis would you give patient B? Using a highlighter, highlight your diagnosis
'LDJQRVLV
&KURPRVRPDO$EQRUPDOLW\
Normal # of chromosomes
patient’s problems are due to something other than an
abnormal number of chromosomes.
Klinefelter’s Syndrome
one or more extra sex chromosomes (i.e., XXY)
Down’s Syndrome
Trisomy 21, extra chromosome 21
Trisomy 13 Syndrome
extra chromosome 13
% List two symptoms Patient B will possess.
54
s MSTA Journal s Fall 2010
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Patient C died shortly after birth, with a multitude of anomalies, including polydactyly and
a cleft lip. Chromosomes were obtained from a tissue sample. Complete Patient C’s Karyotype. While completing the karyotype, answer the following question regarding Patient C
1.
2.
3.
4.
5.
6.
7.
8.
9.
The 1st chromosome pictured is the homolog to which chromosome?_______
The 2nd chromosome pictured is the homolog to which chromosome?_______
The 3rd chromosome pictured is the homolog to which chromosome?_______
The 4th chromosome pictured is the homolog to which chromosome?________
The 5th chromosome pictured is the homolog to which chromosome?________
The 6th chromosome pictured is the homolog to which chromosome?_______
The 7th chromosome pictured is the homolog to which chromosome?_______
The 8th chromosome pictured is the homolog to which chromosome?_______
The 9th chromosome pictured is chromosome?_______
,QWHUSUHWLQJWKHNDU\RW\SH
Lab technicians compile karyotypes and then use a specific notation to characterize the
karyotype. This notation includes the total number of chromosomes, the sex chromosomes,
and any extra or missing autosomal chromosomes. For example, ;< indicates that
the patient has 47 chromosomes, is a male, and has an extra autosomal chromosome 18.
;; is a female with a normal number of chromosomes.;;< is a patient with an
extra sex chromosome.
&*LYHQWKHLQIRUPDWLRQSURYLGHGDERYH, what QRWDWLRQ would you use to characterize
Patient C’s karyotype? _______________
0DNLQJDGLDJQRVLV
The next step is to either diagnose or rule out a chromosomal abnormality. In a patient
with a normal number of chromosomes, each pair will have only two chromosomes. Having
an extra or missing chromosome usually renders a fetus inviable. In cases where the fetus
makes it to term, there are unique clinical features depending on which chromosome is affected. Listed below are some syndromes caused by an abnormal number of chromosomes.
& What diagnosis would you give patient C? Using a highlighter, highlight your diagnosis
'LDJQRVLV
&KURPRVRPDO$EQRUPDOLW\
Normal # of chromosomes
patient’s problems are due to something other than an
abnormal number of chromosomes.
Klinefelter’s Syndrome
one or more extra sex chromosomes (i.e., XXY)
Down’s Syndrome
Trisomy 21, extra chromosome 21
Trisomy 13 Syndrome
extra chromosome 13
& List two symptoms Patient C will possess.
X
Classroom Activities | www.msta-mich.org s
55