61例国内外首报的染色体异常核型与临床关系研究

A study on the relationship with 61 rare cases of abnormal chromosome karyotype and clinical diseases

目的了解国内外首报的染色体异常与生育缺陷和小儿智力低下的关系。方法抽取6784例患有生育缺陷和小儿智力低下患者外周血,进行常规染色体分析,部份患者孕中期抽取羊水、脐带血进行染色体核型分析。结果发现染色体异常核型714例,其中61例为国内外首次发现的染色体异常核型。通过对61例特殊患者进行临床病例分析,发现29例患者有习惯性流产史,占总数48%,10例患者为无精子或严重少精子症,占总数16%,5例患者为不育症,占总数0.8%,5例患者精子畸形率>30%,占总数0.8%,3例表现为原发性闭经,占总数0.5%,2例生育畸形儿,占总数0.3%,2例智力低下,占总数0.3%,3例胎儿发育畸形,占总数0.5%,2例平衡易位携带者,占总数0.3%。结论染色体异常是导致生育缺陷和小儿智力低下的遗传因素之一。

Objective：To study the relationship of chromosome aberration to birth defects and infantile mental retardation.Methods：Peripheral blood from 6784 patients with infertility,habitual abortion,dead fetus or abnormal birth and amniotic fluid of the middle stage of pregnancy or cord blood from part of those patients was sampled.Chromosome analysis was performed on cultured lymphocytes.Results：There were 714 cases of abnormal chromosome karyotype including 61 rare cases reported firstly in the world.Further clinical analysis showed 29 cases of spontaneous abortion（48%）,10 cases of oligospermia or azoospermia（16%）,5 cases of infertility（0.8%）,5 cases of teratospermia（0.8%）,3 cases of primary amenorrhea（0.5%）,2 cases of congenital malformation（0.3%）,2 cases of mental retardation（0.3%）,3 cases of fetal development malformation（0.5%） and 2 carrier of chromosomal balanced translocation（0.3%）.Conclusion：Chromosomal abnormality is one of the genetic factors leading to birth defects and infantile mental retardation.