Clinical delineation of 18q11‐q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects

Clinical delineation of 18q11‐q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects

Abstract Background Since the establishment of chromosomal microarrays in clinical practice, many new microdeletion/microduplication syndromes have been identified, including 18q11.2 microdeletion. Chromosome 18q deletion syndrome is commonly classified into distal deletion and a much rarer proximal...

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Bibliographic Details
Main Authors: Kitiwan Rojnueangnit, Chariyawan Charalsawadi, Weerin Thammachote, Ariya Pradabmuksiri, Thipwimol Tim‐Aroon, Antonio Novelli, Sara Loddo, Silvana Briuglia, Cutrupi M. Concetta, Duangrurdee Wattanasirichaigoon, Natini Jinawath
Format: Article
Language:English
Published: Wiley 2019-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
18q11‐q12 microdeletion
autism
chromosomal microarray
conotruncal heart defects
GATA6
intellectual disability
Online Access:https://doi.org/10.1002/mgg3.896

Internet

https://doi.org/10.1002/mgg3.896

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