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Flashcards in Genetic Diseases Deck (50)
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31

2 or more cell populations with different chromosomal complements due to nondisjunction in mitosis?

mosaicism

32

trisomy 21 with most caused by meiotic nondisjunction?

Down syndrome

33

which disorder: epicanthic folds, flat facial profile, mental retardation?

down syndrome

34

which disorder: cardiac malformations, infections, increased risk of developing leukemia?

down syndrome

35

male hypogonadism with at least 2 X ---most 47, XXY

klinefelter syndrome

36

which disorder: hypogonadism, long legs/arms, reduced facial/body/pubic hair, gynecomastia, testicular atrophy

klinefelter

37

oral manifestation of klinefelter?

taurodontism

38

hypogonadism in females, most 45 X

turner syndrome

39

most common cause of familial mental retardation?

fragile X

40

which disorder: triple repeat mutation, loss of straining or constriction in long arm of x chromosome?

fragile X

41

which disorder: mental retardation, long face w/ large mandible, everted ears, large testicles?

fragile X

42

are mitochondrial dna diseases maternally or paternally inherited?

maternally

43

an example of mitochondrial dna disease?

leber hereditary optic neuropathy

44

type of diseases arising from the inactivation of maternal or paternal genes during gametogenesis?

genomic imprinting

45

examples of genomic imprinting?

prader-willi syndrome and angelman syndrome

46

deletion in maternal chromosome?

angelman

47

deletion in paternal chromosome?

prader-willi

48

which disorder: obesity, mental retardation, short stature, hypotonia, small hands and feet, hypogonadism?

prader-willi

49

happy puppet syndrome?

angelman

50

which disorder: mental retardation, ataxic gait, seizures, inappropriate laughter?

angelman