respiratory teach - genetics Flashcards
(25 cards)
what is the chance of being. a CF carrier if someones sister has CF?
2/3 because they do not suffer but because their sister does it means the parents are both carriers (if not affected)
trisomy 21
downs syndrome
pathophysiology of downs syndrome
non-disjunction
trisomy 18
edwards syndrome
pathophysiology of edwards syndrome
non-disjunction
trisomy 13
patau’s syndrome
pathophysiology of patau’s syndrome
non-disjunction
symptoms of downs syndrome
single palmar crease
low IQ
alzheimers
cardiac problems
symptoms of edwards syndrome
small head
low ears
heart problems
low birthweight
emanuel syndrome
translocation of 22/11 chromosome
inherit small chromosome
symptoms of emanuel syndrome
decreased muscle tone low IQ small head/ jaw ear problems heart problems kidney/ genital problems in males
wolf-hirschonn syndrome
deletions in chromosome 4
symptoms of wolf-hirschonn syndrome
broad and flat nasal bridge high forehead protruding eyes small head poorly formed ears small philtrum
diGeorge syndrome
deletion of chromosome 22
symptoms of diGeorge syndrome
small head low nasal bridge flat midface thin upper lip short nose smooth philtrum
Cri-du-chat syndrome
deletions in chromosome 5
symptoms of Cri-du-chat syndrome
high pitched cry downward slanting eyes delayed growth low birth weight webbing of fingers
turner syndrome
missing X chromosome
symptoms of turner syndrome
females only affected webbed neck short stature infertility heart problems
autosomal dominance
parents have it
50% have it
inherited by both sexes
autosomal dominance with reduced penetrance
parents do not always show it
50% have it, but not always
inherited by both sexes
autosomal recessive
parents unaffected
25% inherit it
may skip generations
affects both sexes
x-linked dominant
father passes on the does not affect sons just daughters
if mother passes it on then affects both sexes
x-linked recessive
mothers are unaffected by able to pass it on
only males affected
