Kim J-W, Park S-Y, Ryu H-M, Lee D-E, Lee B-Y, Kim S-Y, Park Y-S, Lee H-S, Seo J-T
Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center, Kwandong University School of Medicine, Seoul, Korea.
Cytogenet Genome Res. 2012;136(4):270-7. doi: 10.1159/000338413. Epub 2012 Jun 8.
Structural abnormalities include various types of translocations, inversions, deletions, duplications and isochromosomes. Structural abnormalities of the Y chromosome are estimated to affect less than 1% of the newborn male population and are particularly hazardous for male reproductive function. The objective of this study was to characterize a group of patients with structural abnormalities of the Y chromosome. All patients who visited our laboratory between 2007 and 2010 underwent cytogenetic investigations. Among these, we detected 26 patients with structural abnormalities of the Y chromosome. To confirm the structural Y chromosome alterations, we used special bandings, FISH and multiplex PCR to detect Y chromosome microdeletions. Of the 26 patients presented here, 11 had an isodicentric Y chromosome, 7 had an inversion, 3 had a translocation, 2 had a derivative, 2 had a Yqs and 1 had a deletion. Sixteen were diagnosed with azoospermia, 8 as normal fertile males and 1 as a man who was unable to donate semen due to mental retardation. One of the patients having 45,X/46,X,idic(Y) was reported to be phenotypically female with primary amenorrhea and without uterus. Deletions of the AZFbc region were correlated with the sperm concentration (p < 0.05), but no correlation with the levels of FSH, LH, testosterone, prolactin and estradiol were found. The present report shows that the precise identification of structural Y chromosome aberrations may be clinically important for genetic counseling and assisted reproductive technology treatment.
结构异常包括各种类型的易位、倒位、缺失、重复和等臂染色体。据估计，Y染色体的结构异常影响不到1%的新生男性人口，对男性生殖功能尤其有害。本研究的目的是对一组Y染色体结构异常的患者进行特征描述。2007年至2010年间到我们实验室就诊的所有患者均接受了细胞遗传学检查。在这些患者中，我们检测到26例Y染色体结构异常的患者。为了确认Y染色体结构改变，我们使用特殊带型、荧光原位杂交（FISH）和多重聚合酶链反应（PCR）来检测Y染色体微缺失。在此呈现的26例患者中，11例有双着丝粒Y染色体，7例有倒位，3例有易位，2例有衍生染色体，2例有Yqs，1例有缺失。16例被诊断为无精子症，8例为正常可育男性，1例因智力发育迟缓无法捐献精液。其中1例45,X/46,X,idic(Y)患者据报道表型为女性，原发性闭经且无子宫。AZFbc区域的缺失与精子浓度相关（p < 0.05），但未发现与促卵泡生成素（FSH）、促黄体生成素（LH）、睾酮、催乳素和雌二醇水平相关。本报告表明，Y染色体结构畸变的精确识别对于遗传咨询和辅助生殖技术治疗可能具有重要临床意义。
