Antenatal description of large 4q13.2q21.23 deletion and outcomes

Antenatal description of large 4q13.2q21.23 deletion and outcomes

Abstract Background 4q21 microdeletion syndrome is an emergent non‐recurrent genomic disorder characterized by facial dysmorphy, progressive growth retardation, severe intellectual deficit, and absent or severely delayed speech. Deletions occur in clusters along 4q interstitial or terminal regions....

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Bibliographic Details
Main Authors: Anna‐Gaëlle Giguet‐Valard, Christelle Thevenin, Sophie Dreux, Valérie Decatrelle, Marie‐Laure Juve, Soraya Yazza, Clara Adenet, Marion Lesueur, Patrice Bouvagnet, Michèle Gueneret
Format: Article
Language:English
Published: Wiley 2024-02-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
4q21 microdeletion syndrome
antenatal description
bony anomalies of the extremities
excess of amniotic fluid
full cheeks
short long bones
Online Access:https://doi.org/10.1002/mgg3.2397

Internet

https://doi.org/10.1002/mgg3.2397

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