Genetics Flashcards
Does autosomal dominant skip a generation?
NO
Does autosomal recessive skip a generation?
maybe yes
Prenatal screening tests?
1) mom’s age - 35yo+: down
2) maternal serum screning
3) fetal US
Down sx prenatal screening?
quadruple screen
1) low aFP
2) low unconjugated estriol
3) HIGH hCG
4) HIGH inhibin A
Down sx - sx?
mental retardation mongolian face macroglossia micrognathasia short stature
Down sx - complications?
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
Trisomy 18- sx?
hypotonia micrognathia micropthalmia clenched hand with overlapping fingers rock bottom feet
Trisomy 18 - prognosis?
not living past 1yo
Trisomy 13 -sx?
polydactyl
Trisomy 13 - prognosis?
not living past 6mo
Klinfeleter sx?
extra X chromosome
males
Klinfeleter sx - sx?
very tall no muscle socially awkward mild delay in school doesnt' follow tanner/SMR stages scoliosis
Klinfeleter sx - labs?
LOW TESTOSTERONE
Turner sx?
females
Turner sx - sx?
normal IQ lymphedema of hands and feet short stature little pubic hair NO ovaries
Turner sx - associated sx?
congenital heart defect (coarctation of aorta)
horse shoe kidneys
NO ovaries but has working uterus - able to get pregnant
Fragile X sx?
inherited mental retardation that worsens w/ generation
males
Fragile X sx - PE?
elongated face
protruding ears
flatted nose bridge
macroorchidism
Fragile X tx?
ADHD meds
Prader Willi sx - sx/PE?
hypotonia w/ poor feeding voracious appetite in early childhood - obesity developmental delay emotional lability almond shaped eyes small hands and feet
Angelman sx - PE?
maxillary hypoplasia large mouth short stature ataxic gait jerky movements puppet like movement laughter
