Genetics Flashcards
1
Q
Marfan syndrome
A
Autosomal dominant
2
Q
Hereditary hemorrhagic telangiectasia
A
Autosomal dominant
3
Q
Rett syndrome
A
X-linked dominant
4
Q
Infantile polycystic kidney disease
A
Autosomal recessive
5
Q
Phenylketonuria
A
Autosomal recessive
6
Q
Familial hypercholesterolemia
A
Autosomal dominant
7
Q
Myotonic type 1 (myotonic dystrophy)
A
Autosomal dominant - CTG
8
Q
Lysosomal storage diseases (except Fabry disease)
A
Autosomal recessive
9
Q
Fabry disease
A
X-linked recessive
10
Q
Sickle cell disease
A
Autosomal recessive
11
Q
Familial adenomatous polyposis
A
Autosomal dominant
12
Q
Kartagener syndrome
A
Autosomal recessive
13
Q
Neurofibromatosis type 1 (von Recklinghausen disease)
A
Autosomal dominant
14
Q
Wilson disease
A
Autosomal recessive
15
Q
Wiskott-Aldrich syndrome
A
X-linked recessive
16
Q
Ocular albinism
A
X-linked recessive
