Cytogenetics and clinical characteristics of nine children with ring chromosome syndrome
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.
ring chromosomekaryotype analysisgenotype-phenotypechromosomal microarray analysiswhole exome sequencing analysis
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