一名具有正常生殖能力的45,X/46,X,psu idic(Xq)患者存在隐匿性46,XX细胞系的证据。
Evidence for a cryptic 46,XX cell line in a 45,X/46,X,psu idic(Xq) patient with normal reproduction.
作者信息
James R S, Sharp A J, Cockwell A E, Coppin B, Jacobs P A
机构信息
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK.
出版信息
J Med Genet. 1997 Dec;34(12):1030-2. doi: 10.1136/jmg.34.12.1030.
Gonadal dysgenesis resulting in primary infertility is one of the most common features of Turner syndrome. There have been a number of cases described of pregnancy in 45,X subjects, but whether or not the fertility is associated with a 46,XX cell line in the germ cells is not known. We describe a 45,X/46,X,psu idic(Xq) female with normal fertility, in whom a cryptic 46,XX cell line was found in the germ cells.
性腺发育不全导致原发性不孕是特纳综合征最常见的特征之一。已有多例45,X个体怀孕的病例报道，但生殖细胞中的生育能力是否与46,XX细胞系相关尚不清楚。我们描述了一名具有正常生育能力的45,X/46,X,psu idic(Xq)女性，其生殖细胞中发现了隐匿的46,XX细胞系。
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