性腺发育不全患者的多重镶嵌现象（作者译）
[Multiple mosaicism in a patient with gonadal dysgenesis (author's transl)].
作者信息
López Pajares I, Barreiro E, Delicado A, Cunchillos J D, Benítez J, Gracia R
出版信息
An Esp Pediatr. 1975 May-Jun;8(3):317-24.
PMID:1155863
Abstract
A fourteen years old girl, with short height and primary amenorrhea is presented. Laparoscopic examination revealed bilateral gonadal streaks. Chromosome analysis from leukocyte culture, revealed mosaicism with a predominant cell line del 45,X and another cell lines del 46,XXX/46,X,r(X)46,X,del(X)/47,XX,r(X)47,XXdel(X)/48,XXXX.
摘要
一名14岁女孩，身材矮小且原发性闭经。腹腔镜检查发现双侧条索状性腺。白细胞培养的染色体分析显示为嵌合体，主要细胞系为45,X缺失，其他细胞系为46,XXX/46,X,r(X)/46,X,del(X)/47,XX,r(X)/47,XXdel(X)/48,XXXX。
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