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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。
In this paper, 2891 cases of genetic counseling in patients with 20 cases of primary amenorrhea in patients with peripheral blood lymphocyte chromosome karyotype analysis showed that: 20 cases of primary amenorrhea patients, chromosome abnormalities were 13 cases (karyotype 46, XX), 7 cases of chromosomal abnormalities, accounting for 35%. Among them, 45 cases were X 2 cases (Turner syndrome), 47 cases were XXX cases, 46 cases were XY cases, 46 cases were XY 46 cases, example. This article considers that chromosomal abnormalities is one of the major causes of primary amenorrhea. The selection of the optimal period for diagnosis and treatment of some primary amenorrhea during prenatal and early childhood is discussed.