Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).

Cécile Courdier, John Boudjarane,Valérie Malan,Christine Muti,Brian Sperelakis-Beedham,Sylvie Odent,Sylvie Jaillard,Chloé Quelin,Cédric Le Caignec,Olivier Patat,Charlotte Dubucs,Sophie Julia,Caroline Schluth-Bolard,Carole Goumy,Sylvia Redon,Jean-Baptiste Gaillard, Minh Tuan Huynh,Céline Dupont,Anne-Claude Tabet, Guillaume Cogan,François Vialard,Rodolphe Dard,Guillaume Jedraszak,Florence Jobic,Mathilde Lefebvre, Geneviève Quenum, Saori Inai,Mélanie Rama,Fanny Sauvestre,Frédéric Coatleven, Julie Thomas,Caroline Rooryck

Prenatal diagnosis（2023）

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摘要

This work strengthens the fact that 7q11.23 CNVs are associated with a broad spectrum of antenatal presentations. IUGR and cardiovascular defects were the most frequent ultrasound signs. By reporting the biggest series of antenatal WBS, we aim to better delineate distinctive signs in fetuses with 7q11.23 CNVs.

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关键词

duplication syndrome,williams syndrome,antenatal ultrasound features

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