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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