一例18q21.2q21.32杂合缺失所致Pitt-Hopkins综合征患儿的遗传学分析  

Genetic analysis of a child with Pitt-Hopkins syndrome due to a 18q21.2q21.32 deletion

作　　者：张钰琦 秦翠云 吴涵之 Zhang Yuqi;Qin Cuiyun;Wu Hanzhi(Medical Genetics Research Center,Northwest Women′s and Children′s Hospital,Xi′an,Shaanxi 710061,China)

机构地区：[1]西北妇女儿童医院遗传中心,西安710061

出　　处：《中华医学遗传学杂志》2022年第10期1149-1152,共4页Chinese Journal of Medical Genetics

摘　　要：目的探讨1例全面发育迟滞伴智力障碍患儿的遗传学病因。方法采用染色体G显带核型分析、拷贝数变异测序(copy number variation sequencing,CNV-seq)以及染色体高分辨技术对患儿及其父母进行变异筛查,并明确其亲代来源。结果患儿及其父亲的染色体核型均为46,XY,del(18)(q21.1q21.3),母亲为46,XX。CNV-seq提示患儿为arr[19]18q21.2-q21.32(chr18:48422190-58039582)×1,即存在约10.58 Mb缺失,涉及TCF4基因,而父母均未发现相同缺失。经染色体高分辨技术发现患儿父亲18号染色体长臂的部分片段(18q21.1q21.3)插入到了5号短臂(5p13.1)。结论染色体G显带核型分析与CNV-seq技术能有效诊断Pitt-Hopkins综合征,染色体高分辨技术有助于明确染色体异常的亲代起源。Objective To explore the genetic etiology of a child featuring global developmental and mental retardation.Methods Chromosome G-banding karyotype analysis,copy number variation sequencing(CNV-seq)and high-resolution chromosome banding were used to screen the genomic variant in the child and his parents.Results Both the child and his father were found to have a karyotype of 46,XY,del(18)(q21.1q21.3),whilst his mother was 46,XX.CNV-seq analysis showed that the child was arr[19]18q21.2-q21.32(chr18:48422190-58039582)×1,with a 10.58 Mb deletion which encompassed the TCF4 gene.The same deletion was found in neither parent.High-resolution banding revealed that the father has a fragment of 18q21.1q21.3 inserted into 5p13.1.Conclusion The child was diagnosed with Pitt-Hopkins syndrome due to the 18q21.2q21.32 deletion.Chromosome karyotyping and CNV-seq can effectively identify submicroscopic chromosome anomalies.

关 键 词：Pitt-Hopkins综合征 18q21.2q21.32 TCF4基因 染色体G显带核型分析 染色体拷贝数变异测序 染色体高分辨技术 

分 类 号：R725.9[医药卫生—儿科]