A 47,XXY Pregnant Woman without the <it><bold>SRY</it></bold> Gene

被引：2

作者：

Hu, Liqin ^{[1
]}

Liu, Ping ^{[2
]}

Ma, Li ^{[1
]}

Xin, Xiaoqin ^{[4
]}

Chen, Junkun ^{[3
]}

Xie, Qing ^{[3
]}

Luo, Fuyu ^{[3
]}

Xie, Xinxing ^{[3
]}

Huang, Jungao ^{[3
]}

机构：

[1] Ganzhou Maternal & Child Hlth Hosp, Dept Gynaecol & Obstet, Ganzhou, Peoples R China

[2] Ganzhou Maternal & Child Hlth Hosp, Dept Antenatal Diag, Ganzhou, Peoples R China

[3] Ganzhou Maternal & Child Hlth Hosp, Dept Med Genet, Ganzhou 341000, Jiangxi, Peoples R China

[4] Ganzhou Peoples Hosp, Dept Clin Lab, Ganzhou, Peoples R China

来源：

SEXUAL DEVELOPMENT | 2019年 / 13卷 / 02期

关键词：

47; XXY; SRY; Y chromosome; COMPLETE ANDROGEN INSENSITIVITY; TESTICULAR FEMINIZATION; Y-CHROMOSOME; PATIENT;

D O I：

10.1159/000496996

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Individuals with a 47,XXY karyotype usually present with a male phenotype due to the additional Y chromosome. In this paper, we describe a 47,XXY female who was pregnant with a fetus of the same karyotype based on chromosome analysis of amniotic fluid cells. Further analysis of her Y chromosome indicated that the additional Y chromosome contains no SRY gene on the short arm but carries the azoospermia factor region on the long arm, including azoospermia factor a, b and c (AZFa, AZFb, AZFc). This region may influence her female phenotype. Fertile females with a 47,XXY karyotype and loss of SRY are extremely rare. This paper is the first report of a 47,XXY pregnant woman with a normal phenotype and may enrich our knowledge on 47,XXY individuals.

引用

页码：83 / 86

页数：4

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