Chromosome 22q11.2 deletion: world definition criteria, standards for diagnosis and monitoring

The article presents own clinical observation of the chromosome 22q11.2 microdeletion syndrome in a child with congenital heart disease. Phenotype also includes facial skull anomalies, immune disorders, developmental delay and even cognitive deficits. The authors analyzed the current world definitio...

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Bibliographic Details
Main Authors: M.A. Gonchar, O.L. Logvinova, A.I. Strashok, N.V. Konovalova, D.A. Ivakhnenko
Format: Article
Language:English
Published: Zaslavsky O.Yu. 2018-02-01
Series:Zdorovʹe Rebenka
Subjects:
Online Access:http://childshealth.zaslavsky.com.ua/article/view/127073