性染色体異常

英

sex chromosome abnormality, sex chromosome disorder, sex chromosome aberration, sex chromosome anomaly

同

性染色体異常疾患、性染色体異常症

Klinefelter’s syndrome	[male]	(XXY)	1:850	testicular atrophy, eunuchoid body shape, tall, long extremities, gynecomastia, female hair distribution. Presence of inactivated X chromosome (Barr body).
Turner’s syndrome	[female]	(XO)	1:3000	short stature, ovarian dysgenesis (streak ovary), webbing of neck, coarctation of the aorta, most common cause of 1° amenorrhea. No Barr body.
double Y males	[male]	(XYY)	1:1000	phenotypically normal, very tall, severe acne, antisocial behavior (seen in 1.2% of XYY males).