Disorders Autosomal/Sex Linked Symptoms Down’s syndrome Autosomal aneuploidy (trisomy, +21) Mongolian eyefold (epicanthus), open mouth, protruded tongue, projected lower lip, many loops on finger tip, palm crease Turner’s syndrome Sex chromosomal monosomy 44 + XO Short stature females (<5’), webbed neck, body hair absent menstrual cycle absent. Sparse pubic hair, underdeveloped breasts narrow lips puffy fingers Ste he pr Klinefelter’s syndrome Sex chromosomal aneuploidy (tri/tetrasomy of X chromosome) 44+XXY 44+XXXY The males are tall with long legs, testes small, sparse body hair, Barr body present, breast enlargement Gy ia ste