IR@PKUHSC  > 北京大学第三临床医学院
学科主题临床医学
Clinical, cytogenetic, and molecular analysis with 46,XX male sex reversal syndrome: case reports
Gao, Xuefeng; Chen, Guian; Huang, Jing; Bai, Quan; Zhao, Nan; Shao, Minjie; Jiao, Liping; Wei, Yanling; Chang, Liang; Li, Dan; Yang, Liping
关键词Sex Reversal 46 Sry Gene Xx Male
刊名JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
2013-03-01
DOI10.1007/s10815-013-9939-7
30期:3页:431-435
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Genetics & Heredity ; Obstetrics & Gynecology ; Reproductive Biology
研究领域[WOS]Genetics & Heredity ; Obstetrics & Gynecology ; Reproductive Biology
关键词[WOS]NEGATIVE XX MALE ; TRUE HERMAPHRODITISM ; PARTIAL DUPLICATION ; COMMON ORIGIN ; SRY ; GENE ; INFERTILITY ; SOX9
英文摘要

To investigate the clinical characteristics of different categories of sex-reversed 46,XX individuals and their relationships with chromosomal karyotype and the SRY gene.

Chromosome karyotyping for peripheral blood culture and multi-PCR and FISH were performed.

Endocrinological data showed that their endocrine hormone levels were similar to that observed for Klinefelter syndrome, with higher FSH and LH levels and lower T levels. Chromosome karyotyping for peripheral blood culture revealed 46, XX complement for 11 males. Molecular studies showed that there were locus deletions at SY84, SY86, SY127, SY134, SY254 and SY255 in AZF on chromosome Y in 9 cases, with the SRY gene present at the terminus of the X chromosome short arm. In one case, besides 6 locus deletions in AZF, there was also SRY gene deletion. In another case, there were locus deletions only at SY254 and SY255, with SY84, SY86, SY127 SY134 loci and SRY present.

The majority (10/11) of 46,XX males were SRY positive, with the SRY gene translocated into the terminus of the X chromosome short arm. These patients were caused mainly by an X/Y chromosomal inter-change during paternal meiosis, leading to the differentiation of primary gonads into testes. Only a single patient (1/11) was SRY-negative, in which there might be some unknown downstream genes involved in sex determination.

语种英语
WOS记录号WOS:000316753300017
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被引频次:6[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/50044
专题北京大学第三临床医学院
作者单位Peking Univ, Ctr Assisted Reprod, Dept Obstet & Gynecol, Hosp 3, Beijing 100191, Peoples R China
推荐引用方式
GB/T 7714
Gao, Xuefeng,Chen, Guian,Huang, Jing,et al. Clinical, cytogenetic, and molecular analysis with 46,XX male sex reversal syndrome: case reports[J]. JOURNAL OF ASSISTED REPRODUCTION AND GENETICS,2013,30(3):431-435.
APA Gao, Xuefeng.,Chen, Guian.,Huang, Jing.,Bai, Quan.,Zhao, Nan.,...&Yang, Liping.(2013).Clinical, cytogenetic, and molecular analysis with 46,XX male sex reversal syndrome: case reports.JOURNAL OF ASSISTED REPRODUCTION AND GENETICS,30(3),431-435.
MLA Gao, Xuefeng,et al."Clinical, cytogenetic, and molecular analysis with 46,XX male sex reversal syndrome: case reports".JOURNAL OF ASSISTED REPRODUCTION AND GENETICS 30.3(2013):431-435.
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