A 47,XXY Pregnant Woman without the <b><i>SRY</i></b> Gene

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.

A novel report of a fertile female with partial Y chromosome gain completing a healthy pregnancy

“…Females with Y chromosome material with female genitalia are extremely rare with estimations at <20 reports in the literature (Burnside et al, 2008; Hu et al, 2019; Wu et al, 2014). There has been one report of a 47,XXY female also without the SRY gene becoming pregnant; however, this apparently female fetus died in utero (Hu et al, 2019). To our knowledge, this is the first case described of a 46 female with Y chromosome material arrangement completing a successful pregnancy.…”