Chromosomal Abnormalities Flashcards
Alzheimer Disease (Presenilin 2)
1
Von Hippel Lindau (VHL)
3
Huntington Disease (CAG repeat)
4
FAP (APC)
5
Williams syndrome (deleted elastin)
7
Cystic Fibrosis (CTFR - Phe508 deletion)
7
Burkitt Lymphoma (c-myc)
8
Friedreich Ataxia (GAA repeat - Frataxin)
9
MEN 2 (RET)
10
Wilms Tumor (WT1)
11
Prader Willi (Maternal imprinting)
15
ADPKD (PKD1)
16
Neurofibromatosis 1 (NF1 -> neuorofibromin)
17
Edwards (Trisomy)
18
Alzheimer Disease (APP)
21
Patau (Trisomy)
13
Neurofibromatosis 2 (NF2 -> merlin)
22
Alzheimer Disease (Presenilin 1)
14
Peutz Jeghers (STK11)
19
ADPKD (PKD2)
4
Cri du Chat (Short arm deletion)
5
B thalassemia (point mutation)
11
Mantle Cell Lymphoma (Cyclin D)
11
Angelman (Paternal imprinting)
15
Marfan Syndrome (FBN1)
15
Down Syndrome (Trisomy)
21
a thalassemia (gene deletion)
16
Fragile X (FMR1)
X
Bruton agammaglobulinemia
X
Ornithine transcarbamylase deficiency
X
Wiskott Aldrich
X
G6PD
X
Hemophilia A
X
Hemophilia A
X
Hunter
X
Fabry
X
Becker (insertions - Dystrophin)
X
Duchenne (frameshift - truncated Dystrophin)
X
Lesch-nyhan
X
Retinoblastoma (Rb)
13
Wilson Disease (ATP7B)
13
Dysplastic Nevus Syndrome (CDK2A)
9