Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques
Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques
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DOI：
10.1093/humrep/deh626
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发表时间：
2005-02-01
影响因子：
6.1
通讯作者：
Tiboni, GM
中科院分区：
文献类型：
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作者：
Clementini, E;Palka, C;Tiboni, GM
背景：本研究分析了接受辅助生殖技术的夫妇中核型改变和Yq11微缺失的流行情况。方法：2078对不孕夫妇在接受IVF或ICSI治疗前，采用外周血淋巴细胞gtg -显带技术进行核型变化筛查。未见明显的染色体重排表型。所有核型正常的低精/无精男性进一步用PCR检测Yq11微缺失。结果：2078对夫妇中有82对（3.95%）有一方携带染色体改变，202对男性中有10对（4.95%）存在Yq11微缺失。染色体重排为易位44例（2.1%），淋体镶嵌23例（1.1%），47、XXY 6例（0.3%），标记染色体5例（0.24%），倒位3例（0.14%），重复1例（0.05%）。男性和女性的异常发生率相似，分别为42例和40例。结论：需要IVF或ICSI治疗的不育夫妇的伴侣似乎比一般人群受到更高频率的染色体重排的影响。风险较高的类别由精子数量较多的男性代表
Background: This study analyses the prevalence of karyotype changes and Yq11 microdeletions among couples referred for assisted reproduction techniques. Methods: Prior to receiving either IVF or ICSI treatment, each partner of 2078 infertile couples was screened for karyotype changes by GTG-banding technique on peripheral lymphocytes. No subject presented with obvious phenotype of chromosomal rearrangement. All the oligo/azoospermic men with normal karyotype were further investigated by PCR for Yq11 microdeletions. Results: Eighty-two out of 2078 couples (3.95%) had one partner carrying a chromosomal change, and 10 out of 202 (4.95%) men showed Yq11 microdeletions. The chromosomal rearrangements were 44 (2.1%) translocations, 23 (1.1%) gonosomal mosaics, six (0.3%) 47,XXY, five (0.24%) marker chromosomes, three (0.14%) inversions and one (0.05%) duplication. Frequency of anomalies in men and women were similar: 42 and 40 cases respectively. Conclusions: Partners of infertile couples requiring IVF or ICSI treatment appear to be affected by higher frequency of chromosomal rearrangements than the general population. Categories with greater risk were represented by men with sperm cell count