性腺嵌合体45,X/46,X,假双着丝粒Y染色体(q11.2)导致具有混合型性腺发育不全的特纳综合征表型。
Gonadal mosaicism 45,X/46,X,psu dic(Y)(q11.2) resulting in a Turner phenotype with mixed gonadal dysgenesis.
作者信息
Gole L A, Lim J, Crolla J A, Loke K Y
机构信息
Department of Obstetrics and Gynaecology, National University of Singapore, 5 Lower Kent Ridge Road, Singapore 119074.
出版信息
Singapore Med J. 2008 Apr;49(4):349-51.
A two-year-and-eight-month-old girl presented with clitoromegaly and short stature. Two cell lines, 45,X and 46,X,idic(Y)(q11.2), were observed. Cytogenetic and fluorescence in situ hybridisation investigations were carried out on her peripheral lymphocytes and gonadal cells, to determine the genotype-phenotype effect with respect to differential tissue distribution, effects of the sex determining region of the Y chromosome, and the break-points in the azoospermia factor region.
一名两岁八个月大的女童出现阴蒂肥大和身材矮小的症状。观察到两种细胞系，即45,X和46,X,idic(Y)(q11.2)。对其外周淋巴细胞和性腺细胞进行了细胞遗传学和荧光原位杂交研究，以确定关于不同组织分布的基因型-表型效应、Y染色体性别决定区的作用以及无精子症因子区域的断点。
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