Genetics

Question 1

IUGR, delayed G&D, short palp fissures, epicanthal folds, maxillary hypoplasia, smooth philtrum, thin upper lip

Answer 1

Fetal alcohol syndrome

Question 2

Visual display of chromosomes arrested during cell division in prophase

Answer 2

Karyotype

Question 3

Same person with diff genetic makeup

Answer 3

Mosaicism

Question 4

Horizontal transmission; occurring on consanguineous marriages; e.g. thalassemia, galactosemia, PKU

Answer 4

Autosomal recessive

Question 5

Vertical transmission; 50% chance of passing the trait; e.g. polydactyly, neurocutaneous syndromes

Answer 5

Autosomal dominant

Question 6

M>F; affected males will inly have carrier daughters; e.g. hemophilia, Duchenne’s muscular dystrophy

Answer 6

X-linked inheritance

Question 7

X-linked syndrome with MR, autistic behavior, macro-orchidism, long face, large ears, prominent square jaw

Answer 7

Fragile-X syndrome

Question 8

X-linked d/o presenting w/ neonatal hypotonia, FTT, hypogonadism, almond-shaped eyes, small hands and feet

Answer 8

Prader Willi syndrome

Question 9

Syndrome characterized by absence of speech with spontaneous bouts of laughter, ataxic gait, seizures

Answer 9

Angelman syndrome

Question 10

Embryonic stage: AOG prone to teratogens

Answer 10

3rd-8th wk AOG