两兄弟严重少精子症的家系分析，致因是母源性 X 染色体异常（Xp22.3，q22）。

Pedigree analysis of two brothers with severe oligozoospermia caused by maternal inv(X) (p22.3, q22) chromosome abnormality.

机构信息

Department of Prenatal diagnostic, Women and Children's Hospital, School of Medicine, Xiamen university, Xiamen, China.

Department of Andrology, United Diagnostic and Research Center for Clinical Genetics, Women and Children's Hospital, School of Medicine, Xiamen university, Xiamen, China.

出版信息

Andrologia. 2020 Jul;52(6):e13602. doi: 10.1111/and.13602. Epub 2020 Apr 30.

DOI:10.1111/and.13602

PMID:32352591

Abstract

Sex chromosome abnormality (SCA) is one of the major causes of male spermatogenesis dysfunction. In our study, we sought to investigate the novel X chromosome inversion leading to severe oligozoospermia. Here, we report two brothers with severe oligozoospermia without any other abnormal clinical phenotype. The chromosome karyotypes in peripheral blood of both brothers were 46, Y, inv (X) (p22.3, q22), and no Y chromosome microdeletion was found. The karyotype of their mother was 46, X, inv (X) (p22.3, q22) and that of their father was 46, XY. This is the first report in China that X chromosomal inversion, 46, Y, inv (X) (p22.3, q22), is associated with severe oligozoospermia. This inversion may be a direct genetic risk factor for spermatogenesis.

摘要

性染色体异常（SCA）是男性精子发生功能障碍的主要原因之一。在我们的研究中，我们试图探讨导致严重少精子症的新型 X 染色体倒位。在这里，我们报告了两名患有严重少精子症的兄弟，他们没有任何其他异常的临床表型。两兄弟外周血的染色体核型均为 46，Y，inv（X）（p22.3，q22），未发现 Y 染色体微缺失。他们母亲的核型为 46，X，inv（X）（p22.3，q22），父亲的核型为 46，XY。这是中国首例报道 X 染色体倒位 46，Y，inv（X）（p22.3，q22）与严重少精子症有关。这种倒位可能是精子发生的直接遗传风险因素。