The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling

Abstract Background Despite recent advances in prenatal genetic diagnosis, medical geneticists still face considerable difficulty in interpreting the clinical outcome of copy‐number‐variant duplications and defining the mechanisms underlying the formation of certain chromosomal rearrangements. Optic...

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Hauptverfasser:	Malek Bouassida, Denise Molina‐Gomes, Fairouz Koraichi, Bérénice Hervé, Morgane Lhuilier, Clémence Duvillier, Jessica Le Gall, Marion Gauthier‐Villars, Valérie Serazin, Thibaud Quibel, Rodolphe Dard, François Vialard
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Wiley 2024-04-01
Schriftenreihe:	Molecular Genetics & Genomic Medicine
Schlagworte:	15q23q24.2 triplication optical genome mapping prenatal diagnosis RB1 gene
Online-Zugang:	https://doi.org/10.1002/mgg3.2437
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