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15 Cards in this Set

  • Front
  • Back
Down Syndrome
Causes
Trisomy 21 - incidence increases with maternal age, made by maternal meiotic nondisjunction

Translocation - familial form, no relation to maternal age, causes by paternal meiotic translocation
Down Syndrome
characteristics
Severe MR, large forehead, epicanthal folds, Brushfield spots - white spots on periphery of iris
simian crease
Down Syndrome
Complications
Congential Heart Disease
Acute Leukemia
Inc susceptibility to inf
brains changes like Alz
Down Syndrome
Maternal Screening
AFP - low
hCG - high
unconjugated estriol - low
Cri Du Chat
deletion of short arm of Chr 5
Severe MR, microcep, catlike cry
Hypertelorism(wide set eyes), epicanthal folds, low set ears
DiGeorge (CATCH 22)
CATCH 22 - Cardiac abn, Abnormal facies, T cell deficit, Cleft palate, Hypocalemia
All due to microdel of 22
Edwards
nondisjuction making trisomy Trisomy 18
prominent occiput, micrognathia, rocker-bottom feet, MR, flexion def, CHD
Patau
Trisomy 13
MR, Microopthlamia, brain abno, Cleft lip and palate polydactyly, rocker bottom feet, CHD
Kleinfelters
at least 2 X and 1 Y (XXY)
XXY - single barr body
caused by maternal Meiotic nondisjuction
Kleinfelters
Atrophic Testes, tall stature, eunuchoid apperance with gyneomastia
Dec testosterone prod, Inc pit gonadotropins, NO MR,
XYY
violent behavior, tallness, acne, mild MR
Turner
complete or partial monosomy of X chr, XO
female hypogonadism, primary amenorrhea, no BARR bodies, XO
Turner
female hypogonadism, primary amenorrhea, no BARR bodies, XO, No MR
fibrous streaks on ovaries
infantile gen, short stature, webbed neck, Coarctation of aorta
XXX
menstral irregularties, mild MR which increases with every extra X
Fragile X
Tandem CGG repeats
MR second to Down
cytogentially demostrable efect