新发9号染色体异常患儿的临床和细胞遗传学研究  

Clinical and cytogenetic study in a child with de novo chromosome 9 abnormality

作　　者：陆碧玉 谭建强 袁德健 王文丹 韦小妮 严提珍 蔡稔 

机构地区：[1]柳州市妇幼保健院医学遗传科/柳州市出生缺陷预防与控制重点实验室,广西柳州545001

出　　处：《中国当代儿科杂志》2018年第1期52-55,共4页Chinese Journal of Contemporary Pediatrics

基　　金：柳州市科学研究与技术开发计划项目研究成果资助(2014G020404);广西省卫生厅项目(Z2015192)

摘　　要：分析9号染色体短臂缺失或重复患儿的临床表型及其与染色体核型的关系。患者,女,6个月,因运动发育迟缓就诊,染色体核型分析确定为9号染色体短臂异常,高通量测序分析发现存在9p24.3-9p23区域缺失和9p23-9p13.1区域重复,其父母染色体核型分析正常。核型分析结合高通量测序对于提高运动发育落后或多发先天畸形和智力落后患者的病因诊断效率具有重要意义。This study aimed to analyze the clinical phenotype of chromosome 9 p deletion or duplication and its relationship with karyotype. A patient, female, aged 6 months, visited the hospital due to motor developmental delay. Karyotype analysis identified abnormalities of chromosome 9 short arm, and high-throughput sequencing found 9 p24.3-9 p23 deletion and 9 p23-9 p13.1 duplication. Her parents had a normal karyotype. Karyotype analysis combined with high-throughput sequencing is of great significance for improving the efficiency of etiological diagnosis in children with motor developmental delay or multiple congenital deformities and mental retardation.

关 键 词：染色体核型分析 高通量测序技术 9号染色体异常 儿童 

分 类 号：R725.9[医药卫生—儿科]