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Chromosomes - USMLE

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ritivova's version from 2016-02-26 20:32

Section

Question Answer
vHL3
Renal cell carcinoma3
ADPKD (PKD2)4
Achondroplasia4
Huntington4 (CAG)
Cri-du-chat5 (microcephaly, IDD, VSD)
Familial Adeno poly5 (APC)
Hemochromatosis6
Cystic fibrosis7 (CFTR - dPhe508)
Williams syndrome7 (Hypercalcemia, defect in elastin)
Freidrich9 (GAA)
Wilms tumor11
B-globin gene11
Sickle cell11 (glutamic to valine)
Patau13
Wilson13
Retinoblastoma13
BRCA213
Prader-Willi15
Angelman15
Marfan15
ADPKD (PKD1)16
a-globin (alpha thal)16
Neurofibromatosis type 117
BRCA117
Edwards18
Down21
Neurofibromatosis type 222
DiGeorge22
Fragile xX
XLAX
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