Clinical phenotypes and genetic analysis of 25 children with ring chromosomes
10.3760/cma.j.cn101070-20240103-00002
- VernacularTitle:环状染色体患儿25例的临床表型及遗传学分析
- Author:
Chaojie WANG
1
;
Ding ZHAO
;
Rui LI
;
Zhenhua ZHANG
;
Jinghui KONG
;
Bo ZHANG
;
Xian LI
;
Linfei LI
;
Yaodong ZHANG
Author Information
1. 郑州大学附属儿童医院，河南省儿童医院，郑州儿童医院，河南省儿童遗传代谢性疾病重点实验室，郑州 450018
- Keywords:
Child;
Ring chromosomes;
Development retardation;
Karyotype analysis;
Analysis of genomic copy number variation
- From:
Chinese Journal of Applied Clinical Pediatrics
2024;39(7):528-532
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the correlation between clinical phenotypes and genetic characteristics of children with ring chromosomes (RCs).Methods:Case series study.The clinical data of 11 434 children who received treatment and peripheral blood chromosome karyotype detection in Henan Children′s Hospital from October 2008 to October 2023 due to growth retardation, intellectual impairment or congenital malformation were analyzed retrospectively.A total of 25 children with RCs were selected.Their age at diagnosis, karyotype distribution, clinical manifestations, and genetic detection results were analyzed.Results:RCs were detected in 25 out of 11 434 children, with a detection rate of 0.21%.The genome-wide copy number variation (CNV) analysis was performed on 7 RCs cases, and it found that pathogenic variation existed in all of them.Among the 25 RC cases (11 males and 14 females of social gender), the age at diagnosis ranged from 2 months to 14 years; there were 20 autosomal rings and 5 sex chromosome rings; 13 cases had chimeric karyotypes, and 12 cases had non-chimeric karyotypes.Most of the 25 children showed clinical manifestations of mental or developmental retardation, and some also presented with specific clinical manifestations, such as short stature, congenital malformation, and epilepsy.Conclusions:The pathogenesis of RCs is complex.The clinical manifestations are determined by both RCs syndrome and specific phenotypes caused by the dose effect and exhibit high heterogeneity, so it is easy to miss or misdiagnose.The combined application of cellular and molecular genetic detection technology can facilitate early diagnosis and treatment of RCs, and the correlation analysis of phenotypes and genetic characteristics can provide guidance for genetic counseling.
