具有非嵌合型XY性染色体的单纯性腺发育不全。
Pure gonadal dysgenesis with nonmosaic XY sex chromosomes.
作者信息
Meldrum D R, Sparkes R S
出版信息
Obstet Gynecol. 1976 Sep;48(3):357-9.
PMID:948382
Abstract
A person with pure gonadal dysgenesis (XY) is described in whom peripheral leukocytes, skin, fascia, and both gonads were subjected to chromosomal analysis, confirming a lack of mosaicism. Previous case reports and the developmental and genetic basis for such an anomaly are reviewed.
摘要
本文描述了一名患有单纯性腺发育不全（XY型）的患者，对其外周血白细胞、皮肤、筋膜和双侧性腺进行了染色体分析，证实不存在嵌合体现象。文中回顾了既往病例报告以及此种异常情况的发育和遗传基础。
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