A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation—Case Report With Literature Review

A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation—Case Report With Literature Review

3q29 deletion syndrome is a rare disorder, causing a complex phenotype. Clinical features are variable and relatively non-specific. Our report aims to present an atypical, de novo deletion in chromosome band 3q29 in a preschool boy, first child of healthy non-consanguineous parents, presenting a par...

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Bibliographic Details
Main Authors: Adela Chirita Emandi, Andreea Iulia Dobrescu, Gabriela Doros, Capucine Hyon, Diana Miclea, Calin Popoiu, Maria Puiu, Smaranda Arghirescu
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-07-01
Series:Frontiers in Pediatrics
Subjects:
3q29
cytogenetics
intellectual disability
cardiac malformation
behavior
Online Access:https://www.frontiersin.org/article/10.3389/fped.2019.00270/full

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