108例9号染色体异态性的核型分析及1例9qh+合并t(1;3)(q21;p21)平衡易位新核型报道  

Karyotyping of 108 cases with chromosome heteromorphism and report of one case with new karyotype of 9qh+ combined with t(1;3)( q21;p21) balanced translocation

作　　者：欧珊[1] 欧惠[2] 唐斌[1] 陈少科[1] 杜娟[1] 蒙达华[1] 郑陈光[1] 

机构地区：[1]广西壮族自治区妇幼保健院厢竹院区,广西南宁530003 [2]广西卫生职业技术学院,广西南宁530000

出　　处：《中国妇幼保健》2016年第13期2668-2670,共3页Maternal and Child Health Care of China

基　　金：广西医药卫生自筹项目(Z2015238)

摘　　要：目的探讨9号染色体多态性与自然流产、不孕不育、智力低下、不良孕史、先天畸形、矮小等的关系。方法收集2009年1月-2012年7月就诊于广西壮族自治区妇幼保健院遗传咨询的108例9号染色体多态性病例,采用常规方法细胞培养,G显带及C显带。结果 inv(9)88例,检出率为1.11%;9qh+20例,检出率为0.25%。临床症状组发生概率与人群发生概率基本一致,同时检出9qh+合并t(1;3)(q21;p21)平衡易位1例。结论 9号染色体多态性可导致一定的临床效应,但应持谨慎分析的态度。Objective To explore the relatioships between chromosome 9 polymorphism and spontaneous abortion, infertility, mental retardation, adverse pregnancy history, congenital malformations, and pygmyism. Methods A total of 108 cases with chromosome polymor- phism receiving genetic counseling in the hospital from January 2009 to July 2012 were collected, then routine cell culture, G banding, and C banding were conducted. Results Eighty-eight cases were diagnosed as inv （9） , the detection rate was 1.11% ; twenty cases were di- agnosed as 9qh＋, the detection rate was 0. 25%. The incidence rates of clinical symptoms were in accordance with the incidence rates among population. One case was diagnosed as 9qh＋ combined with t （ 1 ; 3 ） （ q21 ; p21 ） balanced translocation. Conclusion Chromosome 9 polymorphism can result in a certain clinical effect, but careful analysis is necessary.

关 键 词：9号染色体 染色体多态 9号染色体倒位 次缢痕增加 

分 类 号：R394[医药卫生—医学遗传学]