摘要
目的评价复发性流产与染色体核型分布的关系。方法收集本院本中心2010年7月至2012年11月行外周血染色体核型分析的所有病例。结果在对本院生殖医学中心就诊病人核型分析检查异常的206例样品中,其中复发性流产的异常染色体核型的46例(女13例男33例),总异常率为22.33%。在检出的46例染色体异常核型中常染色体结构异常有22例(10.68%),含平衡易位6例(2.91%)、臂间倒位2例(0.97%),随体增加4例(1.94%),次缢痕增加9例(4.37%),次缢痕减少1例(0.48%);性染色体结构异常占21例(10.2%)。其中大Y染色体20例(9.71%)(其中2例同时伴次缢痕增加,1例伴随体增加),其中Y染色体臂间倒位1例(0.48%)。染色体数目异常3例,3例均为嵌合体(1.46%)。结论复发性流产与染色体异常核型密切相关,进行遗传学咨询、产前筛查及胚胎植入前遗传学筛查对达到优生优育的目的是很有必要。
Objective ： To study the correlation of chromosome karyotypes and recurrent abortion. Methods ： Collecting information about those courples who have detected the hromosome karyotypes of circular lymphocytes in the centre of our hospital from July 2010 to November 2012. Results： Out of 206 cases, 46 cases of abnormal chromosome were found （female 13 male 33 ）, accounting for 22. 33% of total cases. Including 22 cases of autosome Abnormalities： 6 cases of balanced reciprocal translocation and 2 cases of in- versions, 4 cases of satellite increases, 9 cases of secondary constriction increases and 1 case secondary constriction decrease. 24 ca- ses of sex chromosome abnormalities ： 20 cases of large Y chromosome （ at the same time 2 cases of secondary constriction increases, 1 case of satellite increases） and 1 cases of inversions of Y chromosome. 3 cases chromosome numerical abnormality, both of them are chimaeras. Conclusion： There is a close relationship between chromosome karyotypes and recurrent abortion, practical genetic consultation, antepartum screening and preimplantation genetic diagnosis are necessary to the couples for the purpose of depressed.
出处
《中国优生与遗传杂志》
2013年第4期64-65,41,共3页
Chinese Journal of Birth Health & Heredity
