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

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。

Abstract:

This study aimed to analyze the clinical phenotype of chromosome 9p 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 9p24.3-9p23 deletion and 9p23-9p13.1 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.