Genetics Flashcards
1
Q
Does autosomal dominant skip a generation?
A
NO
2
Q
Does autosomal recessive skip a generation?
A
maybe yes
3
Q
Prenatal screening tests?
A
1) mom’s age - 35yo+: down
2) maternal serum screning
3) fetal US
4
Q
Down sx prenatal screening?
A
quadruple screen
1) low aFP
2) low unconjugated estriol
3) HIGH hCG
4) HIGH inhibin A
5
Q
Down sx - sx?
A
mental retardation mongolian face macroglossia micrognathasia short stature
6
Q
Down sx - complications?
A
neuro: -seizures -early alzheimer's/dementia eyes: -early cataracts ENT: -hearing loss -eustachian tube dsyfxn Cardiac: -50% has cardiac anaomolies - US Lungs: -pulm HTN Endocrine: -hypothyroid MS: -atlano-axial instability GI: -bilious vomiting GU: -infertile
7
Q
Trisomy 18- sx?
A
hypotonia micrognathia micropthalmia clenched hand with overlapping fingers rock bottom feet
8
Q
Trisomy 18 - prognosis?
A
not living past 1yo
9
Q
Trisomy 13 -sx?
A
polydactyl
10
Q
Trisomy 13 - prognosis?
A
not living past 6mo
11
Q
Klinfeleter sx?
A
extra X chromosome
males
12
Q
Klinfeleter sx - sx?
A
very tall no muscle socially awkward mild delay in school doesnt' follow tanner/SMR stages scoliosis
13
Q
Klinfeleter sx - labs?
A
LOW TESTOSTERONE
14
Q
Turner sx?
A
females
15
Q
Turner sx - sx?
A
normal IQ lymphedema of hands and feet short stature little pubic hair NO ovaries
