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遗传  2009 

Analysis of the chromosomal abnormality in 5774 patients with clinical reproductive abnormality and 32 new karyotypes
5774例临床生育不良者异常染色体核型分析及32种人类染色体新核型报告

Keywords: 新核型,异常核型,染色体,临床生育不良

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Abstract:

To study the relationship between chromosomal abnormality and clinical ending events of reproductive abnor-mality, G-banding and karyotype analyses were carried out by using chromosome preparations from peripheral blood lym-phocytes. Out of 5 774 cases with reproductive abnormality, 550 individuals had chromosomal abnormalities. Among them, 255 cases (46.36%) were trisomy, 91 cases (16.55%) were reciprocal translocation, 85 cases (15.45%) were chromosomal inversion, 81 cases (14.73%) were deletions, 21 cases (3.82%) were Robertsonian translocation, 7 cases (1.27%) were short arm increment, 6 cases (1.09%) were Y chromosome increment and 4 cases (0.73%) were abnormal satellites. Thirty-two cases with novel chromosomal abnormality karyotypes in them, being complicated by miscarriage, sterility, and congenital malformation, were firstly reported. The results suggested that chromosomal abnormality could be the one of main factors related to the bad reproductive ending events.

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