摘要
本文对2891例遗传咨询患者中的20例原发性闭经患者,均作外周血淋巴细胞染色体核型分析,结果显示:20例原发性闭经患者中,染色体未见异常者13例(核型46,XX),染色体异常者7例,占35％。其中45,X 2例(属Turner综合征),47,XXX 1例,46,XY 2例,46,XY/46,XX 1例46,XX/46,X,del(X)(q22)1例。本文认为性染色体异常是原发性闭经的主要原因之一,讨论了某些原发性闭经的产前、婴幼儿期诊断及治疗的最佳时期的选择。
Twenty patients with primary amenorrhea were presented with chromosome analysis of periphesial blood lympohocyte. Results: 13 cases were normal (Karyotype; 46,XX); 7 cases were abnormal ,including 45,X(2 cases),which is Turner's syndrome;47. XXX(1 case); 46,XY (2 cases); 46,XY/46,XX (1 case);46,XX/46,X,del(X)(q22)(1 case). Conclusion : Sex chromosome abnormalities play an important role in primary arnenorrhea. The patients with primary arnenorrhea should accept the cytogentic diagnosis earlierly. The prenatal diagnosis of chorionic cell chromosome should be taken for the pregnant women above 35 years old. This paper also discussed the prenatal diagnosis,infant diagnosis and the choice of the best therapertic time.
出处
《中国计划生育学杂志》
1997年第2期79-81,共3页
Chinese Journal of Family Planning
关键词
原发性
闭经
染色体
Primary Amenorrhea Turner' s syndrome Sex chromosome abnormality
