Inheritance Flashcards
1
Q
Achondroplasia
A
AD
2
Q
Albinism
A
AR
3
Q
Infant Polycystic Kidney Dz
A
AR
4
Q
Cystic Fibrosis
A
AR
CFTR Gene on Chromo 7
5
Q
Glycogen Storage Dzs
A
AR
6
Q
Neurofibromatosis Type 1
A
AD
NF1 gene on Chromo 17
7
Q
Hemochromatosis
A
AR
8
Q
Kartagener
A
AR
9
Q
Mucopolysaccharidoses (except Hunter)
A
AR
10
Q
PKU
A
AR
11
Q
Sickle cell
A
AR
12
Q
Sphingolipidoses (except Fabry)
A
AR
13
Q
Thalassemias
A
AR
14
Q
Neurofibromatosis Type 2
A
AD
NF2 gene on Chromo 22
15
Q
Wilson Dz
A
AR
16
Q
Bruton Agammaglobulinemia
A
XLR
17
Q
Tuberous Sclerosis
A
AD
18
Q
von Hippel-Lindau
A
AD
VHL Gene on Chromo 3
19
Q
Wiskott-Aldrich
A
XLR
20
Q
Fabry
A
XLR
21
Q
G6PD Deficiency
A
XLR
22
Q
Ocular Albanism
A
XLR
23
Q
Lesch-Nyhan
A
XLR
24
Q
Duchenne
A
XLR
25
Becker
XLR
26
Hunter Syndrome
XLR
27
Hemophilia
XLR
28
Ornithine Transcarbamylase Deficiency
XLR
29
Trinucleotide repeat of Fragile X
CGG
30
Trinucleotide repeat of Freidrich Ataxia
GAA
31
Trinucleotide repeat of Huntington
CAG
32
Trinucleotide repeat of Myotonic Dystrophy
CTG
33
Adult Polycystic Kidney Dz
AD
PKD1 (Chromo 16) 85%
PKD2 (Chromo 4)
34
FAP
AD
APC Gene on Chromo 5
35
Familial Hypercholesterolemia
AD
LDL receptor gene mutation
36
Hereditary Hemorrhagic Telangiectasia
AD
37
Hereditary Spherocytosis
AD
Spectrin or Ankyrin defect
38
Huntington
AD
CAG repeats on Chromo 4
39
Marfan
AD
Fibrillin-1 Gene
40
MEN 1
AD
41
MEN 2A/2B
AD
Ret Gene
