An infertile 45,X male with a SRY-bearing chromosome 13: a clinical case report and literature review
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- 作者：Di Peng (1)
Yong-Sheng Zhang (1)
Xin-Yue Zhang (1)
Cong Hu (1)
Mei-Han Liu (1)
Rui-Zhi Liu (1)
1. Center for Reproductive Medicine ; The First Bethune Hospital of Jilin University ; Changchun ; Jilin ; 130021 ; China - 关键词：Monosomy X ; Azoospermia ; Infertility ; Y chromosome ; Cryptic translocation ; Sex determination
- 刊名：Journal of Assisted Reproduction and Genetics
- 出版年：2015
- 出版时间：January 2015
- 年：2015
- 卷：32
- 期：1
- 页码：107-109
- 全文大小：863 KB
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- 刊物主题：Medicine & Public Health
Gynecology
Developmental Biology
Human Genetics - 出版者：Springer Netherlands
- ISSN：1573-7330
文摘
Purpose 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. Methods Karyotyping was performed by GTG-banded chromosome analysis. The presence and location of SRY was investigated using PCR and FISH, respectively. Results 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.