Repro Review

Question 1

List the autosomal dominant diseases

Answer 1

achondroplasia, ADPCKD, familial adenomatous polyposis, familial hypercholesterolemia, hereditary hemorrhage telangiectasia, hereditary spherocytosis, Huntington disease, Li-Fraumeni syndrome, Marfan syndrome, multiple endocrine neoplasias, NF1, NF2, tuberous sclerosis, VHL

Question 2

List the autosomal recessive diseases

Answer 2

albinism, autosomal recessive polycystic kidney disease, cystic fibrosis, glycogen storage diseases, hemochromatosis, Kartagener syndrome, mucopolysaccharidoses (except Hunter syndrome), phenylketonuria, sickle cell anemia, sphingolipidoses (except Fabry disease), thalassemia, Wilson disease

Question 3

List the X-linked recessive diseases

Answer 3

Oblivious Female Will Give Her Boys Her X-Linked Disorders
O - ocular albinism
F - Fabry disease
W - Wiskott-Aldrich
G - G6PD deficiency
H - Hunter syndrome
B - bruton agammaglobulinemia
H - hemophilia A and B
L - Lesch-Nyhan syndrome
D - Duchenne muscular dystrophy

Question 4

What is the one X-linked dominant disorder you should remember?

Answer 4

Fragile X syndrome