Genetics

Question 1

X-linked dominant

Answer 1

Fragile X (CGG repeat, FMR1 gene)
Rett (MECP2)

Question 2

X-linked recessive

Answer 2

Lesh-Nyhan Syndrome (HGPRT gene on short arm of X chromosome, males)
Hunter (deficiency of iduronate sulfatase - accumulation of glycosaminoglycans)

Question 3

Sex chromosomes

Answer 3

Turner (45, X)
Triple X (1 in 1,000 f)
Klinefelter (47, XXY)
XYY (1 in 1,000 m)

Question 4

Autosomal deletions & duplications

Answer 4

Prada-Willi Syndrome: 15q11-13 paternal
Angelman: 15q11-3 maternal
Williams: 7q11.23
Cri-du-chat: 5p
Smith-magenis: 17p11.2
Di George: 22q11.2
Rubinstein-Taybi: 16p13.3

Question 5

Autosomal dominant

Answer 5

Noonan
Tuberous sclerosis
Neurofibromatosis type 1
Sturge Weber syndrome

Question 6

Autosomal recessive

Answer 6

Phenylketonuria
Hurler
Sanfillipo
Laurence-moon-biedl

Question 7

Miscellaneous

Answer 7

Cornelia de Lange: 5
FASD
Epilepsy
Lennox-Gastaut
Infantile spasms