Extra From Book

Question 1

Autosomal dominant diseases

Answer 1

Achondroplasia, autosomal dominant polycystic kidney disease, familial adenomatous polyposis, familial hypercholesterolemia, hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome), hereditary spherocytosis, Huntington disease, Li-Fraumeni syndrome, Marfan syndrome, multiple endocrine neoplasias, myotonic muscular dystrophy, neurofibromatosis type 1 (von Recklinghausen disease), neurofibromatosis type 2, tuberous sclerosis, von Hippel-Lindau disease.

Question 2

Autosomal recessive diseases

Answer 2

Oculocutaneous albinism, autosomal recessive polycystic kidney disease (ARPKD), cystic fibrosis, Friedreich ataxia, glycogen storage diseases, hemochromatosis, Kartagener syndrome, mucopolysaccharidoses (except Hunter syndrome), phenylketonuria, sickle cell anemia, sphingolipidoses (except Fabry disease), thalassemias, Wilson disease.

Question 3

X-linked recessive disorders

Answer 3

Ornithine transcarbamylase deficiency, Fabry disease, Wiskott-Aldrich syndrome, Ocular albinism, G6PD deficiency, Hunter syndrome, Bruton agammaglobulinemia, Hemophilia
A and B, Lesch-Nyhan syndrome, Duchenne
(and Becker) muscular dystrophy.

Mnemonic
Oblivious Female Will Often Give Her Boys Her x-Linked Disorders

Question 4

Trinucleotide repeat expansion diseases

Answer 4

Huntington disease, myotonic dystrophy, fragile X syndrome, and Friedreich ataxia.
May show genetic anticipation (disease severity and age of onsetin successive generations).
Try (trinucleotide) hunting for my fragile cage- free eggs (X).

Question 5

Huntigton disease

Answer 5

CAG repeat
Caudate has low ACh and GABA

Question 6

Myotonic dystrophy

Answer 6

CTG repeat
Cataracts, Toupee (early balding in men), Gonadal atrophy in men, reduced fertility in women

Question 7

Fragile X

Answer 7

CGG repeat
Chin (protruding), Giant Gonads

Question 8

Friedrich ataxia

Answer 8

GAA repeat
Ataxic GAAit