[原发性闭经的染色体研究]
[Chromosome study in primary amenorrhea].
作者信息
Krumin' A R, Drulle I P, Vasiliuk L V, Voskoboĭnik N I, Kroshkina V G
出版信息
Tsitol Genet. 1981 Mar-Apr;15(2):79-81.
Primary amenorrhea was studied in 64 women. Chromosome abnormalities or karyotype-phenotype non-conformity were found in 31 of 64 patients (48.4%). The following types of chromosomal pathology were found out: 7 cases with 45,X constitution; 3--45,X/46,XX; 1--45,X/46,XY; 1--45,X/46. XYq-; 1--46,XXq-; 1--45,X/46,XXq-; 2--46,X,i(qX); 2--45,x/46,X,i(qX); 1--45,X/46,XX, +mar. In 12 cases phenotypic women had a 46,XY karyotype.
对64名女性进行了原发性闭经的研究。在64例患者中有31例（48.4%）发现染色体异常或核型-表型不一致。发现了以下几种染色体病理类型：7例具有45,X核型；3例为45,X/46,XX；1例为45,X/46,XY；1例为45,X/46,XYq-；1例为46,XXq-；1例为45,X/46,XXq-；2例为46,X,i(qX)；2例为45,x/46,X,i(qX)；1例为45,X/46,XX,+mar。在12例表型为女性的患者中具有46,XY核型。
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