【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。更多还原

【Abstract】 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 polymorphism 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 diagnosed 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 9polymorphism can result in a certain clinical effect,but careful analysis is necessary.更多还原