مستخدم:Chaos/قائمة العيوب الجينية
Common disorders[عدل]
Disorder | Mutation | Chromosome |
---|---|---|
Angelman syndrome | DCP | 15 |
Canavan disease | ||
Charcot-Marie-Tooth disease | ||
color blindness | P | X |
Cystic fibrosis | P | |
Down syndrome | C | 21 |
ناعور | P | X |
Joubert syndrome | ||
Klinefelter syndrome | C | X |
Neurofibromatosis | ||
Pelizaeus-Merzbacher disease | ||
phenylketonuria | P | |
Prader-Willi syndrome | DC | 15 |
Spina bifida | P | 1 |
Tay-Sachs disease | P | |
Turner syndrome | C | X |
Legend:
- 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
Full list[عدل]
0–9[عدل]
Disorder | Mutation | Chromosome |
---|---|---|
21-hydroxylase deficiency | ||
45,X see Turner syndrome |
||
47,XX,+21 see Down syndrome |
||
47,XXX see triple X syndrome |
||
47,XXY see Klinefelter syndrome |
||
47,XY,+21 see Down syndrome |
||
47,XYY syndrome | ||
5-ALA dehydratase-deficient porphyria see ALAD deficiency porphyria |
||
5-aminolaevulinic dehydratase deficiency porphyria see ALAD deficiency porphyria |
||
5p deletion syndrome see Cri du chat |
||
5p- syndrome see Cri du chat |
A[عدل]
B[عدل]
C[عدل]
D[عدل]
E[عدل]
F[عدل]
G[عدل]
H[عدل]
I[عدل]
J[عدل]
K[عدل]
L[عدل]
M[عدل]
N[عدل]
O[عدل]
P[عدل]
R[عدل]
S[عدل]
T[عدل]
U[عدل]
V[عدل]
W[عدل]
Disorder | Mutation | Chromosome |
---|---|---|
Waardenburg syndrome | ||
WD - Wilson's disease see Wilson disease |
||
Weissenbacher-Zweymüller syndrome | ||
Wilson disease | ||
Wilson's disease see Wilson disease |
||
Wolff Periodic disease see Mediterranean fever, familial |
||
WZS see Weissenbacher-Zweymüller syndrome |
X[عدل]
Y[عدل]
Disorder | Mutation | Chromosome |
---|---|---|
YY syndrome see 47,XYY syndrome |