In:
Sexual Development, S. Karger AG, Vol. 13, No. 2 ( 2019), p. 83-86
Kurzfassung:
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 〈 i 〉 SRY 〈 /i 〉 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 〈 i 〉 SRY 〈 /i 〉 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.
Materialart:
Online-Ressource
ISSN:
1661-5425
,
1661-5433
Sprache:
Englisch
Verlag:
S. Karger AG
Publikationsdatum:
2019
ZDB Id:
2261528-3
