Identification of Extremely Rare Pathogenic CNVs by Array CGH in Saudi Children with Developmental Delay, Congenital Malformations, and Intellectual Disability

Identification of Extremely Rare Pathogenic CNVs by Array CGH in Saudi Children with Developmental Delay, Congenital Malformations, and Intellectual Disability

Chromosomal imbalance is implicated in developmental delay (DD), congenital malformations (CM), and intellectual disability (ID), and, thus, precise identification of copy number variations (CNVs) is essential. We therefore aimed to investigate the genetic heterogeneity in Saudi children with DD/CM/...

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Bibliographic Details
Main Authors: Sajjad Karim, Ibtessam Ramzi Hussein, Hans-Juergen Schulten, Saad Alsaedi, Zeenat Mirza, Mohammed Al-Qahtani, Adeel Chaudhary
Format: Article
Language:English
Published: MDPI AG 2023-03-01
Series:Children
Subjects:
array comparative genomic hybridization
copy number variations
developmental delay
congenital malformations
Saudi Arabia
Online Access:https://www.mdpi.com/2227-9067/10/4/662

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https://www.mdpi.com/2227-9067/10/4/662

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