Chromosomal Abnormalities Flashcards
Beckwith-Wiedemann Syndrome
LGA hypoglycemia macroglossia screen 2/yr by U/S until 6yo for Wilms tumor (hemihypertrophy) ear pits/creases umbilical hernia/oomphalocele
Angelman Syndrome
microcephaly broad mouth, large jaw seizures ataxia, "puppet-like" gait inappropriate laughter autism *15q11 deletion (same as Prader Willi) but INHERITED FROM MOM
CATCH 22 Syndrome
Cardiac, Abnormal facies, Thymic hypoplasia, Cleft lip/palate, hypocalcemia
*DiGeorge, Velocardiofacial Syndrome
Cri du Chat
SGA hypotonia >> weak high-pitched cry, motor delay microcephaly, epicanthal folds small jaw CHD
Klinefelter Syndrome
tall/thin mild LD scant facial/pubic hair hypogonadism gynecomastia sterility *47XXY eventually tx w/testosterone
Fragile X Syndrome
severe speech delay motor delay large ears, long face autism loose joints large testicles (often not seen until puberty) *>200 rpts at Xq27 (Anticipation) ⅓ female carriers have mild sx
Trisomy 18
IUGR hypotonia prominent occiput small facial features clenched hands 5th and 2nd fingers overlap 4th and 3rd
Trisomy 13
punched out scalp lesions: aplasia cutis polydactyly cleft lip/palate 80% CHD holoprosencephaly, microcephaly IUGR, FTT, hypotonia
Prader-Willi Syndrome
FTT (d/t hypotonia) becomes obesity (b/c polyphagia)
hypogonadism
small hands/feet
almond-shaped eyes
short stature
MR, microcephaly
epicanthal folds
*15q11 deletion or imprinting (amount of methylation)
*DNA methylation most accurate diagnostic test
Trisomy 21/Down Syndrome
*redundant nuchal skin
*hypotonia
clinodactyly (5th finger curves inward(
single palmar crease
midface hypoplasia
epicanthal folds
upslanting palpebral fissures
small ears; pinnae w/excessive folds
45% CHD
Turner Syndrome
*45X, ringX, mosaic w/XX or XY webbed neck (in utero cystic hygroma) low hairline infantile lymphedema CHD (often coarct, bicuspid aortic valve) widely-spaced nipples cubitus valgus (elbows medial w/lateral angling of forearm) narrow hyperconvex nails ovarian dysgenesis tx w/GH, HRT gonadectomy if any XY
Williams Syndrome
short stature developmental delay precocious, talkative stellate iris long philtrum, full lips hoarse voice supravalvular AS hypercalcemia *7q microdeletion *contiguous gene syndrome
