Sex Dev. 2019;13(2):83-86. doi: 10.1159/000496996. Epub 2019 Feb 16.
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.
个体的核型为 47,XXY 通常表现为男性表型，这是由于额外的 Y 染色体所致。本文描述了一名核型为 47,XXY 的女性，她怀有一名同样核型的胎儿，这是基于羊水细胞染色体分析得出的结果。对其 Y 染色体的进一步分析表明，额外的 Y 染色体短臂上没有 SRY 基因，但携带了长臂上的无精子因子区域，包括无精子因子 a、b 和 c（AZFa、AZFb、AZFc）。这个区域可能会影响她的女性表型。具有 47,XXY 核型和 SRY 缺失的可育女性极为罕见。本文是首例报道的核型为 47,XXY 的孕妇表现出正常表型，可能丰富了我们对 47,XXY 个体的认识。
