Systemic Screening for 22q11.2 Copy Number Variations in Hungarian Pediatric and Adult Patients With Congenital Heart Diseases Identified Rare Pathogenic Patterns in the Region

Systemic Screening for 22q11.2 Copy Number Variations in Hungarian Pediatric and Adult Patients With Congenital Heart Diseases Identified Rare Pathogenic Patterns in the Region

Congenital heart defects (CHD) are the most common developmental abnormalities, affecting approximately 0.9% of livebirths. Genetic factors, including copy number variations (CNVs), play an important role in their development. The most common CNVs are found on chromosome 22q11.2. The genomic instabi...

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Bibliographic Details
Main Authors: Gloria Kafui Esi Zodanu, Mónika Oszlánczi, Kálmán Havasi, Anita Kalapos, Gergely Rácz, Márta Katona, Anikó Ujfalusi, Orsolya Nagy, Márta Széll, Dóra Nagy
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-04-01
Series:Frontiers in Genetics
Subjects:
22q11.2 deletion syndrome
TBX1 gene
multiplex ligation-dependent probe amplification
copy number variations
droplet digital PCR
syndromic and non-syndromic congenital heart defects
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.635480/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2021.635480/full

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