Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies
Genomics & Informatics
;
: 82-86, 2017.
Article
Dans Anglais
| WPRIM
| ID: wpr-175152
ABSTRACT
Chromosomal microarray (CMA) is a high-resolution, high-throughput method of identifying submicroscopic genomic copy number variations (CNVs). CMA has been established as the first-line diagnostic test for individuals with developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), and multiple congenital anomalies (MCAs). CMA analysis was performed in 42 Korean patients who had been diagnosed with unexplained DD, ID, ASDs, and MCAs. Clinically relevant CNVs were discovered in 28 patients. Variants of unknown significance were detected in 13 patients. The diagnostic yield was high (66.7%). CMA is a superior diagnostic tool compared with conventional karyotyping and fluorescent in situ hybridization.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Trouble autistique
/
Hybridation fluorescente in situ
/
Tests diagnostiques courants
/
Trouble du spectre autistique
/
Caryotypage
/
Déficience intellectuelle
/
Méthodes
Limites du sujet:
Humains
langue:
Anglais
Texte intégral:
Genomics & Informatics
Année:
2017
Type:
Article
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