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An infertile 45,X male with a SRY-bearing chromosome 13: a clinical case report and literature review 期刊论文

编号：

bbb27d90-e8e7-4da2-bc7b-416cdf2cedf0
作者：

Peng, Di#^[1]Zhang, YongSheng(张永胜)^[1]Zhang, XinYue(张馨月)^[1]Hu, Cong(扈聪)^[1]Liu, MeiHan^[1];Liu, RuiZhi(刘睿智)*^[1]
语种：

英文
期刊：

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS ISSN：1058-0468 2015 年 32 卷 1 期 (107 - 109) ; JAN
收录：
关键词：

Monosomy X Azoospermia Infertility Ychromosome Cryptic translocation Sex determination
摘要：

Patients with a karyotype of 45,X (monosomy X) normally display a female phenotype. However, in some rare cases, monosomy X is associated with maleness. Here we describe a case of a male with a 45,X karyotype and primary infertility, which prompted molecular investigation of the sex-determination gene SRY.
Karyotyping was performed by GTG-banded chromosome analysis. The presence and location of SRY was investigated using PCR and FISH, respectively.
PCR confirmed the presence of the SRY gene while FISH analysis demonstrated its location on the p arm of chromosome 13. These findings demonstrate that autosomal retention of SRY can be sub-microscopic and emphasize the importance of PCR and FISH in the genetic workup of the monosomic X male.
推荐引用方式
GB/T 7714：

Peng Di,Zhang Yong-Sheng,Zhang Xin-Yue, et al. An infertile 45,X male with a SRY-bearing chromosome 13: a clinical case report and literature review [J].JOURNAL OF ASSISTED REPRODUCTION AND GENETICS,2015,32(1):107-109.
APA：

Peng Di,Zhang Yong-Sheng,Zhang Xin-Yue,Hu Cong,&Liu Rui-Zhi.(2015).An infertile 45,X male with a SRY-bearing chromosome 13: a clinical case report and literature review .JOURNAL OF ASSISTED REPRODUCTION AND GENETICS,32(1):107-109.
MLA：

Peng Di, et al. "An infertile 45,X male with a SRY-bearing chromosome 13: a clinical case report and literature review" .JOURNAL OF ASSISTED REPRODUCTION AND GENETICS 32,1(2015):107-109.
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