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总结我院自1979年9月至1980年6月164例次外周血染色体检查结果,发现五例染色体病。兹作一报道。病例报告(1)临床诊断唐氏征的3例,核型均为47xy(或x x)+21,确诊为21-三体综合征。均有典型之外貌,明显的智能障碍,两侧通贯手,t 点高位。男2例(12岁及23岁各11例),其中1例(23岁)之母亲于26岁时生患儿,其外祖母、母亲、一舅和一姨患家族性小脑性运动失调症,父母和一弟、一妹之染色体检查均正常。女1例,13岁,两侧第5指只有一横摺纹。(2)男性不育症1例,33岁,未婚。曾在上海某医院检查精液无精子,79年11月来我院泌尿科检查精液亦无精子,外貌男性,中等身材,举止略似女性,胡须少,两侧睾丸较小,弹性
Summary of our hospital from September 1979 to June 1980 164 cases of peripheral blood chromosomal test results and found that five cases of chromosome disease. I make a report here. Case Report (1) clinical diagnosis of Down’s syndrome in 3 cases, karyotype were 47xy (or x x) +21, diagnosed as 21-trisomy. Have a typical appearance, obvious mental retardation, both sides pass hand, t-point high. There were 2 males (11 in each of 12 and 23 years old). One of the mothers (23 years old) had children with cerebellar ataxia at 26 years of age, their grandmothers, mothers, first grandsons and aunts, Parents and a brother, a sister of the chromosome examination were normal. Female 1 cases, 13 years old, both sides of the first five fingers only a horizontal crease. (2) 1 male infertility, 33 years old, unmarried. Have a hospital in Shanghai to check the sperm without sperm, November 79 to our hospital Urology check sperm also no sperm, looks male, medium stature, behave like a woman, beard less, both sides of the testis smaller, flexible