Value of copy number variation analysis and chromosomal karyotyping for the diagnosis of children with intellectual disability/developmental delay / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 228-231, 2021.
Article
em Zh
| WPRIM
| ID: wpr-879559
Biblioteca responsável:
WPRO
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.
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Deficiências do Desenvolvimento
/
Aberrações Cromossômicas
/
Variações do Número de Cópias de DNA
/
Cariotipagem
/
Deficiência Intelectual
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2021
Tipo de documento:
Article