First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende–Gupta and 22q11.2 Deletion Syndromes

First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende–Gupta and 22q11.2 Deletion Syndromes

ABSTRACT Background Multiple molecular diagnoses (MMD) involve distinct or overlapping phenotypes. They are not so rare in the field of congenital anomalies, given an overall 3.5%–8% rate. Mainly, MMD imply distinct genotypes. Exceptionally, genotypes are linked, involving a causal CNV by itself, fa...

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Main Authors: Caroline Racine, Aurore Garde, Olivia Martz, Hana Safraou, Vinciane Eluard, Thierry Rousseau, Nathalie Marle, Fara T. Harizay, Laurent Martin, Julien Maraval, Ange‐Line Bruel, Christophe Philippe, Christel Thauvin‐Robinet, Laurence Faivre
Format: Article
Language:English
Published: Wiley 2025-04-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
22q11 deletion syndrome
multiple molecular diagnosis
SCARF2
VDEGS
Online Access:https://doi.org/10.1002/mgg3.70096
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https://doi.org/10.1002/mgg3.70096

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