Value of copy number variation analysis and chromosomal karyotyping for the diagnosis of children with intellectual disability/developmental delay.
10.3760/cma.j.cn511374-20200319-00182
- Author:
Min LIN
1
;
Huili XUE
;
Yan WANG
;
Hailong HUANG
;
Meimei FU
;
Nan GUO
;
Liangpu XU
Author Information
1. Center of Prenatal Diagnosis, Fujian Provincial Maternity and Child Health Care Hospital, Fuzhou, Fujian 350001, China. xiliangpu@fjmu.edu.cn.
- Publication Type:Journal Article
- MeSH:
Child;
Chromosome Aberrations;
DNA Copy Number Variations;
Developmental Disabilities/genetics*;
Humans;
Intellectual Disability/genetics*;
Karyotyping
- From:
Chinese Journal of Medical Genetics
2021;38(3):228-231
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To assess the value of copy number variations (CNVs) and chromosomal karyotyping analysis for patients with intellectual disability/developmental delay (ID/DD).
METHODS:Chromosomal karyotype analysis was applied to 530 children diagnosed with ID/DD. Single nucleotide polymorphism array (SNP-array) was further applied for 120 children with unknown etiology.
RESULTS:Among the 530 children with ID/DD, 104 (19.62%) were detected with chromosomal abnormalities. For the 120 children analyzed by SNP-array, 44 (36.67%) were detected with CNVs, among which 20 were predicted as pathogenic, 6 as likely pathogenic, 10 as variants of unknown significance, 7 as likely benign,and 1 as loss of heterozygosity.
CONCLUSION:SNP-array can facilitate delineation of the etiology of patients with ID/DD, which may provide a basis for their prognosis, consultation and clinical intervention.
