著者報告一個生後20個月之男性Turner徵氏侯群,具有智力發育阻滯,兩眼分離過遠,內訾贅肉,外耳畸形,高弓顎、頸蹼,先天性心臟病,隱睪,第三趾過長及兩手掌之斷掌線等。染色體數目爲46,性染色體爲XY型,性染色質爲陰性。著者並參考文獻,就其有關畸型及檢驗所見與女性Turner氏徵候群做一比較討論。
A case of male Turner's syndrome in a 20-month-old boy, native of Taiwan, is presented. He had the following congenital defects: mental retardation, epicanthus, hypertelorism, ear lobe anomaly, high arched palate, webbed neck, congenital heart disease, cryptorchidism, third toes longer than the second ones and simian lines. The number of chromosomes is 46, the sex chromosome is of XY type and the sex chromatin test is negative. The literature of Turner's Syndrome in male and female is reviewed and discussed.