山西医科大学学报2024，Vol.55Issue(5)：650-656,7.DOI:10.13753/j.issn.1007-6611.2024.05.016
携带环状染色体患儿9例细胞遗传学诊断及临床特征分析
Cytogenetics and clinical characteristics of nine children with ring chromosome syndrome
王安娣 1杨斌2
作者信息
- 1. 苏州市立医院生殖与遗传中心,苏州 215000
- 2. 苏州大学附属儿童医院检验科
- 折叠
摘要
Abstract
Objective To investigate the cytogenetic and clinical phenotypic characteristics of children with ring chromosome syn-drome.Methods A total of nine children diagnosed with ring chromosome syndrome were selected from January 2015 to December 2021 in Children's Hospital of Soochow University to collect basic clinical information and history information.Chromosome microarray analysis(CM A)results of three cases and whole exome sequencing(WES)results of two cases were analyzed.Results Karyotype analysis showed 3 of 9 children were X-ring chromosome(r(X)),one was ring chromosome 5(r(5)),one was ring chromosome 6(r(6)),two were ring chromosome 14(r(14))and two were ring chromosome 22(r(22)).In addition,dynamic mosaicism in ring chromosome was found except for one case of r(14).The results of CMA and WES showed the deletion of the end of the ring chromo-some in all five children.Common clinical manifestations of ring chromosome syndrome included growth retardation,intellectual impairment and abnormal facial features etc.Some ring chromosomes led to some specific clinical manifestations,such as r(X)-induced gonadal dysplasia and thyroid dysfunction,r(5)-induced Cri-du-Chat syndrome,and r(22)-induced hypotonia.Conclusion The phenotype and the genotype of circular chromosomes are correlated and highly heterogeneous,often exhibiting dynamic chimer-ism,with deletions at the ends of chromosomes.Children with circular chromosome syndrome may exhibit non-specific and specific clinical manifestations.关键词
环状染色体/染色体核型分析/基因型-表型/染色体微阵列分析/全外显子测序分析Key words
ring chromosome/karyotype analysis/genotype-phenotype/chromosomal microarray analysis/whole exome sequencing analysis分类
医药卫生引用本文复制引用
王安娣,杨斌..携带环状染色体患儿9例细胞遗传学诊断及临床特征分析[J].山西医科大学学报,2024,55(5):650-656,7.
