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Pedigree analysis of two brothers with severe oligozoospermia caused by maternal inv(X) (p22.3, q22) chromosome abnormality
Author(s) -
Ge Yunsheng,
Sha Yanwei,
Cai Meijiao,
Chen Xiaolu,
Sha Yankun,
Xu Xiaohui
Publication year - 2020
Publication title -
andrologia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.633
H-Index - 59
eISSN - 1439-0272
pISSN - 0303-4569
DOI - 10.1111/and.13602
Subject(s) - karyotype , x chromosome , genetics , chromosomal inversion , abnormality , y chromosome , chromosomal abnormality , biology , chromosomal translocation , chromosome , oligospermia , andrology , male infertility , medicine , gene , infertility , pregnancy , psychiatry
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.