A 47,XXY Pregnant Woman without the SRY Gene.

A 47,XXY Pregnant Woman without the SRY Gene.
Sex Dev. 2019 Feb 16;:
Authors: Hu L, Liu P, Ma L, Xin X, Chen J, Xie Q, Luo F, Xie X, Huang J
Abstract
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.
PMID: 30799415 [PubMed - as supplied by publisher]

Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - February 16, 2019 Category: Genetics & Stem Cells Authors: Hu L, Liu P, Ma L, Xin X, Chen J, Xie Q, Luo F, Xie X, Huang J Tags: Sex Dev Source Type: research