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10 Cards in this Set
- Front
- Back
Prader Willi and Angelman |
chromosome 15 mutations/deletions |
|
Autosomal dom polycystic kidney disease |
85% chromosome 16: PKD1 15% chromosome 4: PKD2 |
|
Familial adenomatous polyposis |
APC gene chromosome 5 |
|
Huntingtons |
chromosome 4 (CAG repeats) |
|
Neurofibromatosis 1 |
chromosome 17: NF1 -von Recklinghausen disease (17 letters) |
|
Neurofibromatosis 2 |
-chromosome 22 NF2 gene |
|
von Hippel Lindau |
chromosome 3 |
|
cystic fibrosis |
chromosome 7, commonly deletion of Phe508 |
|
Cri du chat |
chromosome 5 (short arm) |
|
williams syndrome |
chromosome 7, long arm |