Nakamura Y, Kitamura M, Nishimura K, Koga M, Kondoh N, Takeyama M, Matsumiya K, Okuyama A
Departments of Urology, Osaka University Medical School and Osaka Central Hospital, Osaka, and Hyogo Medical College, Hyogo, Japan.
Int J Urol. 2001 Feb;8(2):49-52. doi: 10.1046/j.1442-2042.2001.00242.x.
The largest cytogenetic survey involving infertile men was undertaken to clarify whether chromosomal abnormalities, including autosomal abnormalities, affect semen qualities.
All male patients who visited an infertility clinic from 1990 to 1998 underwent chromosomal and semen analysis.
Chromosomal abnormalities were found in 225 of 1790 patients (12.6%). The most frequent anomaly was Klinefelter syndrome (64 cases). Autosomal anomalies accounted for 126 cases. 46,XY,1qh(+) was the most common autosomal anomaly (30 cases) and its incidence was significantly higher than those of normal controls. The seminograms of these patients varied widely, with nine patients having azoospermia and three patients achieving natural pregnancies. It is not yet clear if this karyotype affects spermatogenesis.
Autosomal anomalies as well as sex chromosomal abnormalities might affect spermatogenesis. Cytogenetic study is important before intracytoplasmic sperm injection.
开展了涉及不育男性的最大规模细胞遗传学调查，以阐明包括常染色体异常在内的染色体异常是否会影响精液质量。
对1990年至1998年期间前往不孕不育诊所就诊的所有男性患者进行了染色体和精液分析。
1790例患者中有225例（12.6%）存在染色体异常。最常见的异常是克兰费尔特综合征（64例）。常染色体异常占126例。46,XY,1qh(+)是最常见的常染色体异常（30例），其发生率显著高于正常对照组。这些患者的精液分析结果差异很大，9例患者无精子症，3例患者自然受孕。目前尚不清楚这种核型是否会影响精子发生。
常染色体异常以及性染色体异常可能会影响精子发生。在进行胞浆内单精子注射前，细胞遗传学研究很重要。
