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Flashcards in Genetics Deck (10)
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1
Q

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

A

Fetal alcohol syndrome

2
Q

Visual display of chromosomes arrested during cell division in prophase

A

Karyotype

3
Q

Same person with diff genetic makeup

A

Mosaicism

4
Q

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

A

Autosomal recessive

5
Q

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

A

Autosomal dominant

6
Q

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

A

X-linked inheritance

7
Q

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

A

Fragile-X syndrome

8
Q

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

A

Prader Willi syndrome

9
Q

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

A

Angelman syndrome

10
Q

Embryonic stage: AOG prone to teratogens

A

3rd-8th wk AOG