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