CLIPP 29 Flashcards
what type of FH should be obtained
3 generation
zellweger syndrome
cerebrohepatorenal syndrome, issue w/ peroxisomes, AR
upslanting palpebral tissues seen in
ds
two very common DS findings
hypotonia, small ears
DS chromosomes
There are several karyotypes involving extra material from chromosome 21 that can cause the Down syndrome phenotype, including:
Trisomy 21 (47, XY,+21 in this boy) (the most common and most likely, regardless of the mother’s age);
An unbalanced chromosome translocation resulting in extra chromosome 21 material; and
Mosaicism for a trisomy 21 cell line.
The likelihood of finding a translocation increases in infants born to younger mothers, but trisomy is still most likely, regardless of the parental age.
lab dx for DS
lymphoctyte kartoyype
majority of babies w DS born to moms
under age 35 bc in general they have more babies. altho risk of DS is higher in moms >35
prenatal testing for DS
amnio or cvs w/ chromosomes
most common familial cause of mental retardation vs most common genetic cause
fragile x; DS (genetic, but not familial)
-after DS, FX is most common genetic cause. thus most common genetic is DS but most common familial is FX
what is fragile x
xl trinuc repeat CGG disorder - long jaw, large ears, big testes, mental changes
which genetic disorder assoc w lymphedema in utero
turner–>neck webbing, shield chest w/ wide nipples, hyperconvex nails, low ear placement, hand and foot edema
klinfelters declares in
puberty
47 xyy
may be taller than avg , behavior problems, iq in low-normal range
patau syndrome
trisomy 13
cleft lip/palate, microceph and microopth , umb hernias,polydactlye cutis aplasis
edwards syndroem
risomy 18
rocker bottom feet, renal, heart defects, short neck, small jaw, low ears
