染色体异常在儿童遗传咨询中的分析及8种新核型报道

Analysis of chromosomal abnormalities and a report of eight new karyotypes among children in genetic counseling

摘要:

目的 探讨广西地区儿童遗传咨询患儿中异常核型和临床表型的关系。方法 采用细胞培养及G 显带的方法，对2009 年1 月至2012 年7 月进行儿童遗传咨询的601 例患儿行细胞遗传学及临床分析。结果 在601 例受检者中检出329 例异常核型，包括8 种人类染色体新核型，检出率为54.7%。329 例异常染色体核型中，数目异常317 例（96.4%），结构异常12 例（3.6%）。异常染色体核型在临床上多以唐氏综合征（245/329，74.5%）、发育迟缓（36/329，10.9%）、智力低下（10/329，3.0%）等表现为主。结论 发现了8 例罕见的染色体异常核型，为分析儿童遗传学研究及病因学分析提供了新的资源。

Abstract:

Objective To study the relationship between abnormal karyotypes and clinical phenotypes among children in genetic counseling in Guangxi Zhuang Autonomous Region, China. Methods We studied 601 children who visited Guangxi Zhuang Autonomous Region Women and Children Care Hospital for genetic counseling between January 2009 and July 2012. Blood samples were cultured routinely for karyotype analysis with G banding as well as clinical analysis. Results Out of 601 patients, 329 (54.7%) had chromosomal abnormalities, and 8 new abnormal human karyotypes were found. Among 329 children with abnormal karyotypes, 317 (96.4%) had an abnormal number of chromosomes, and 12 (3.6%) had abnormal chromosomal structure. Abnormal karyotypes were clinically manifested by Down's syndrome (74.5%), growth retardation (10.9%), and mental retardation (3.0%). Conclusions Eight rare abnormal karyotypes were found in the study, providing new resources for the genetic studies and etiological analysis of growth retardation, mental retardation, gonadal dysgenesis, and multiple congenital anomalies in children.