重庆地区4628例遗传咨询儿童细胞遗传学分析及意义

Cytogenetic analysis and its significance of 4628 children for genetic counseling in Chongqing

目的:探求重庆地区遗传咨询儿童染色体异常的分布情况,为疾病诊疗、优生优育管理水平提高提供理论基础。方法:4628例儿童无菌外周血进行常规接种、培养、制片,G带分析,必要时C带分析。结果:4628例检出染色体畸变1049例,异常检出率22.67%;包括73种异常核型,常染色体异常874例(83.32%),性染色体数目及结构异常147例(14.01%),分别以Down’s综合征和Turner综合征最常见;送检原因以智力低下、矮小、先天畸形最多见,年龄分别集中在婴儿期、学龄期和学龄前期,检出异常和临床诊断符合情况分别为:智力低下42.57%(742/1743)、矮小9.98%(98/982)、先天畸形8.10%(56/691)。结论:重庆地区染色体畸变类型较复杂多样,临床上尤应注意及时对不明原因智力低下、先天畸形和生长发育迟缓儿童的染色体筛查,以利于遗传疾病的早期干预和管理。

Objective：To investigate the distribution characteristics of the abnormal karyotpye in Children of Chongqing, to provide the information for management, prenatal diagnosis and intervention. Methods：Samples of the peripheral blood lymphocyte from 4 628 children were prepared with routine cytogenetic methods,G-bangding was employed for karyotype analysis, and C-banding was used when necessary. Results：A total of 22.67%（1 049/4 628） patients were identified to have abnormalities with 73 kinds of karyotypes. Among these aberrations, 874 （83.32%） cases were euchromosome malformation, 159 （15.16%）were sex chromosome malformation,and Down＇s syndrome, Turner＇ s syndrome were the most common. Mental retardation,short stature and congenital malformation were the three main causes of genetic counseling,and the major age grades were infants,school children and preschool children in-sequence,42.57%（742/1 743）with mental retardation,9.98%（98/982） with short stature,and 8.10%（56/691）with congenital malformation were detected to have abnormalities,which were coincided with clinical diagnosis,respectively. Concision：The abnormal karyotypes are various and complex in Chongqing,routine karyotyping is necessary for children of mental retardation,congenital malformation and growth retardation with unknown reason,since it can benefit for early management and intervention of genetic diseases.