Comprehensive 5-year study of cytogenetic aberrations in 668 infertile men.
Comprehensive 5-year study of cytogenetic aberrations in 668 infertile men.
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DOI：
10.1016/j.juro.2009.12.004
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发表时间：
2010-04
期刊：
影响因子：
--
通讯作者：
Lipshultz LI
中科院分区：
文献类型：
--
作者：
Yatsenko AN;Yatsenko SA;Weedin JW;Lawrence AE;Patel A;Peacock S;Matzuk MM;Lamb DJ;Cheung SW;Lipshultz LI
男性不育的原因多种多样，但超过 50% 的病例具有遗传基础。不到 20% 的不育男性中已发现特定的遗传缺陷，因此，大多数原因仍有待阐明。与非梗阻性无精子症相关的最常见的细胞遗传学缺陷是染色体数量和结构异常，包括 Klinefelter 综合征 (47,XXY) 和 Y 染色体微缺失。为了明确不育男性染色体畸变的发生率和性质，我们回顾了 668 名少精症和无精症不育男性的细胞遗传学结果。 2004年1月至2009年3月期间，对668名转诊进行常规细胞遗传学分析的不育男性进行了高分辨率吉姆萨显带染色体分析和/或荧光原位杂交。染色体异常的总体发生率约为8.2%。在 55 名细胞遗传学异常的患者中，29 名 (53%) 观察到性染色体非整倍体，其中 27 名 (49%) 出现克氏综合征。在 26 名不育男性中检测到涉及常染色体 (29%) 和性染色体 (18%) 的结构性染色体异常。 264 名无精症患者中有 35 名（13.3%）出现细胞遗传学异常，365 名少精症患者中有 19 名（5.2%）出现细胞遗传学异常。结构性染色体缺陷和低水平性染色体嵌合在少精症病例中很常见。广泛的细胞遗传学评估和荧光原位杂交可能会提高少精症男性的检出率。这些发现强调了对不育男性进行有效基因检测的必要性，以便夫妇可以就辅助生殖技术做出明智的决定，以实现为人父母的目的。
The causes of male infertility are heterogeneous but more than 50% of cases have a genetic basis. Specific genetic defects have been identified in less than 20% of infertile males and, thus, most causes remain to be elucidated. The most common cytogenetic defects associated with nonobstructive azoospermia are numerical and structural chromosome abnormalities, including Klinefelter syndrome (47,XXY) and Y chromosome microdeletions. To refine the incidence and nature of chromosomal aberrations in males with infertility we reviewed cytogenetic results in 668 infertile men with oligozoospermia and azoospermia. High resolution Giemsa banding chromosome analysis and/or fluorescence in situ hybridization were done in 668 infertile males referred for routine cytogenetic analysis between January 2004 and March 2009. The overall incidence of chromosomal abnormalities was about 8.2%. Of the 55 patients with abnormal cytogenetic findings sex chromosome aneuploidies were observed in 29 (53%), including Klinefelter syndrome in 27 (49%). Structural chromosome abnormalities involving autosomes (29%) and sex chromosomes (18%) were detected in 26 infertile men. Abnormal cytogenetic findings were observed in 35 of 264 patients (13.3%) with azoospermia and 19 of 365 (5.2%) with oligozoospermia. Structural chromosomal defects and low level sex chromosome mosaicism are common in oligozoospermia cases. Extensive cytogenetic assessment and fluorescence in situ hybridization may improve the detection rate in males with oligozoospermia. These findings highlight the need for efficient genetic testing in infertile men so that couples may make informed decisions on assisted reproductive technologies to achieve parenthood.
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DOI：
10.1073/pnas.1635054100
发表时间：
2003-10-14
影响因子：
11.1
作者：
Schultz, N;Hamra, FK;Garbers, DL
通讯作者：
Garbers, DL
影响因子：
9.8
作者：
Dam, Anika H. D. M.;Koscinski, Isabelle;Viville, Stephane
通讯作者：
Viville, Stephane
影响因子：
4
作者：
Yatsenko, SA;Cheung, SW;Lupski, JR
通讯作者：
Lupski, JR
影响因子：
5.2
作者：
Bache, I;Van Assche, E;Tommerup, N
通讯作者：
Tommerup, N
影响因子：
6.1
作者：
Ravel, C.;Berthaut, I.;Siffroi, Jean Pierre
通讯作者：
Siffroi, Jean Pierre