Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome

Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome

The 22q11.2 deletion syndrome (22q11.2DS) is the most common genomic disorder in humans and is the result of a recurrent 1.5 to 2.5 Mb deletion, encompassing approximately 20–40 genes, respectively. The clinical presentation of the typical deletion includes: Velocardiofacial, Di George, Opitz G/BBB...

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Main Authors: Kathleen Rooney, Michael A. Levy, Sadegheh Haghshenas, Jennifer Kerkhof, Daniela Rogaia, Maria Giovanna Tedesco, Valentina Imperatore, Amedea Mencarelli, Gabriella Maria Squeo, Eleonora Di Venere, Giuseppe Di Cara, Alberto Verrotti, Giuseppe Merla, Matthew L. Tedder, Barbara R. DuPont, Bekim Sadikovic, Paolo Prontera
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:International Journal of Molecular Sciences
Subjects:
22q11.2 deletion
DNA methylation
episignature
diagnostic method
DiGeorge syndrome
Velocardiofacial syndrome
Online Access:https://www.mdpi.com/1422-0067/22/16/8611

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https://www.mdpi.com/1422-0067/22/16/8611

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