ABGC 100 Genetic Conditions (100% Accurate)

T13 correct answers Nondisjunction; 1 in 12,000 SGA, MCA: hypotelorism, CLP, heart, brain and kidney defects RR is 1% T18 correct answers Nondisjunction; 1 in 6,000 SGA, MCA: prominent occiput, tightly clenched fingers, heart and brain defects Choroid plexus cyst on u/s RR is 1% T21 correct answers MATERNAL nondisjunction (90%); 5% translocation 21;**usually 14**; 2% mosaic T21 1 in 800 Hypotonic, heart (50%) and GI defects common Mild to moderate ID Immunodeficiency, leukemia common Adults at risk for EO-AZD RR is 1%; Robertsonian ~15-100% for 21;21 AMA = best documented risk factor 47, XXY (Klinefelter) correct answers Nondisjunction; may have additional X chr 1/500 - 1/1,000 May fail to develop 2ndary sex characteristics (tx testosterone) Small testes with few or no sperm Learning disabilities Recurrence is rare but may happen Turner correct answers 45,X karyotype due to nondisjunction or loss of a structurally abnormal X or Y Mosaics common, with a cell line containing 46 chr w/ structurally abnormal X or Y 1/3,000 May fail to develop 2ndary sex characteristics Short stature, primary amenorrhea and usually infertile (tx GH and estradiol) Heart (CoA common) and kidney (horseshoe common) Congenital lymphedema with redundant nuchal skin Learning disabilities Recurrence is rare 47, XYY (Jacob's) correct answers XYY karyotype due to nondisjunction 1 in 1,000 Fertile with LD and behavioral concerns Tall stature Recurrence is rare 47, XXX correct answers Nondisjunction; some have 3+ X