List of genetic diseases –possible topics
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Contents
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1 Common disorders
2 0 –9
3 A
4 B
5 C
6 D
7 E
8 F
9 G
10 I
11 J
12 K
13 L
14 M
15 N
16 O
17 P
18 R
19 S
20 T
21 U
22 V
23 W
24 X

25 Y
The following is a list of genetic disorders and their origins. Beside most disorders is a code that indicates the type of fertilization and the chromosome involved.
P - Point mutation , or any insertion/deletion entirely inside one gene
D - Deletion of a gene or genes
C - Whole chromosome extra, missing, or both - see chromosomal aberrations
T - Trinucleotide repeat disorders - gene is extended in length
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Disorder Mutation Chromosome
22q11.2 deletion syndrome D 22q
Angelman syndrome
Canavan disease
DCP 15
17p
Celiac disease
Charcot-Marie-Tooth disease
Color blindness
Cri du Chat
P
D
X
5
Cystic fibrosis
Down syndrome
P
C
Duchenne muscular dystrophy D
Hemophilia P
Klinefelter syndrome
Neurofibromatosis
Phenylketonuria
C
P
7q
21
Xp
X
X
17q/22q/?
12q
Prader-Willi syndrome
Sickle-cell disease
Spina bifida
DC
P
P
15
11p
1
Tay-Sachs disease P 15
Turner syndrome C X http://en.wikipedia.org/wiki/List_of_genetic_disorders