Phenotypic Analysis of Korean Patients with Abnormal Chromosomal Microarray in Patients with Unexplained Developmental Delay/Intellectual Disability.

Hyo Jeong KimChang Il ParkJae Woo LimGyung Min LeeEunhae ChoHyon J Kim

Published in: Yonsei medical journal (2018)

Dysmorphism can be a phenotypic clue to pathogenic CNVs. Furthermore, pathogenic CNV might be more frequently found if patients have two or more clinical features in addition to DD/ID.

Keyphrases

intellectual disability
end stage renal disease
autism spectrum disorder
newly diagnosed
ejection fraction
chronic kidney disease
peritoneal dialysis
prognostic factors
gene expression