混合性性腺发育不全与性染色体嵌合体，存在多个细胞系，包括Y染色体结构畸变。

Mixed gonadal dysgenesis and sex chromosome mosaicism with multiple cell lines including structural aberrations of the Y chromosome.

作者信息

Al-Awadi S A, Cuschieri A, Farag T I, Naguib K, Teebi A S, Issa M, El-Sayed M

出版信息

Clin Genet. 1983 Feb;23(2):172-6. doi: 10.1111/j.1399-0004.1983.tb01868.x.

DOI:10.1111/j.1399-0004.1983.tb01868.x

Abstract

A case of mixed (asymmetric) gonadal dysgenesis is reported in a girl with ambiguous external genitalia, a right intra-abdominal testis, a left streak gonad containing follicle-like structures devoid of oocytes and bilateral Mullerian derivatives. Buccal smear cells were X-chromatin negative and a Y-chromatin body was present in 31% of cells. Cytogenetic studies in peripheral blood leucocyte cultures showed sex chromosome mosaicism with cell lines including structural abnormalities of the Y chromosome in 36% of the cells: 45,X/46,XY/46,X + i(Yp)/46,X, + Yq-/47,XYY/47,XY + Yq-.

摘要

报告了一例混合型（不对称性）性腺发育不全病例，患者为一名女童，其外生殖器模糊不清，右侧睾丸位于腹腔内，左侧条索状性腺含有无卵母细胞的卵泡样结构，且双侧有苗勒管衍生物。口腔涂片细胞X染色质阴性，31%的细胞中存在Y染色质体。外周血白细胞培养的细胞遗传学研究显示性染色体嵌合体，细胞系包括36%的细胞中Y染色体存在结构异常：45,X/46,XY/46,X + i(Yp)/46,X, + Yq-/47,XYY/47,XY + Yq-。