Flashcards in Genetic Diseases Deck (50)
2 or more cell populations with different chromosomal complements due to nondisjunction in mitosis?
trisomy 21 with most caused by meiotic nondisjunction?
which disorder: epicanthic folds, flat facial profile, mental retardation?
which disorder: cardiac malformations, infections, increased risk of developing leukemia?
male hypogonadism with at least 2 X ---most 47, XXY
which disorder: hypogonadism, long legs/arms, reduced facial/body/pubic hair, gynecomastia, testicular atrophy
oral manifestation of klinefelter?
hypogonadism in females, most 45 X
most common cause of familial mental retardation?
which disorder: triple repeat mutation, loss of straining or constriction in long arm of x chromosome?
which disorder: mental retardation, long face w/ large mandible, everted ears, large testicles?
are mitochondrial dna diseases maternally or paternally inherited?
an example of mitochondrial dna disease?
leber hereditary optic neuropathy
type of diseases arising from the inactivation of maternal or paternal genes during gametogenesis?
examples of genomic imprinting?
prader-willi syndrome and angelman syndrome
deletion in maternal chromosome?
deletion in paternal chromosome?
which disorder: obesity, mental retardation, short stature, hypotonia, small hands and feet, hypogonadism?
happy puppet syndrome?