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

dc.rights.licenseopenen_US
hal.structure.identifierCHU de Bordeaux Pellegrin [Bordeaux]
dc.contributor.authorCOURDIER, Cécile
dc.contributor.authorBOUDJARANE, John
dc.contributor.authorMALAN, Valérie
dc.contributor.authorMUTI, Christine
dc.contributor.authorSPERELAKIS-BEEDHAM, Brian
dc.contributor.authorODENT, Sylvie
dc.contributor.authorJAILLARD, Sylvie
dc.contributor.authorQUELIN, Chloé
dc.contributor.authorLE CAIGNEC, Cédric
dc.contributor.authorPATAT, Olivier
dc.contributor.authorDUBUCS, Charlotte
dc.contributor.authorJULIA, Sophie
dc.contributor.authorSCHLUTH-BOLARD, Caroline
dc.contributor.authorGOUMY, Carole
dc.contributor.authorREDON, Sylvia
dc.contributor.authorGAILLARD, Jean-Baptiste
dc.contributor.authorHUYNH, Minh Tuan
dc.contributor.authorDUPONT, Céline
dc.contributor.authorTABET, Anne-Claude
dc.contributor.authorCOGAN, Guillaume
dc.contributor.authorVIALARD, François
dc.contributor.authorDARD, Rodolphe
dc.contributor.authorJEDRASZAK, Guillaume
dc.contributor.authorJOBIC, Florence
dc.contributor.authorLEFEBVRE, Mathilde
dc.contributor.authorQUENUM, Geneviève
dc.contributor.authorINAI, Saori
dc.contributor.authorRAMA, Mélanie
dc.contributor.authorSAUVESTRE, Fanny
dc.contributor.authorCOATLEVEN, Frédéric
dc.contributor.authorTHOMAS, Julie
hal.structure.identifierService de génétique médicale
hal.structure.identifierCHU de Bordeaux Pellegrin [Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorROORYCK, Caroline
dc.date.accessioned2024-02-16T08:26:48Z
dc.date.available2024-02-16T08:26:48Z
dc.date.issued2023-03-06
dc.identifier.issn0197-3851en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/188186
dc.description.abstractEnWe aimed to gather fetal cases carrying a 7q11.23 copy number variation (CNV) and collect precise clinical data to broaden knowledge of antenatal features in these syndromes. We retrospectively recruited unrelated cases with 7q11.23 deletion, known as Williams-Beuren syndrome (WBS), or 7q11.23 duplication who had prenatal ultrasound findings. We collected laboratory and clinical data, fetal ultrasound, cardiac ultrasound and fetal autopsy reports from 18 prenatal diagnostic centers throughout France. 40 fetuses with WBS were collected and the most common features were intra-uterine growth retardation (IUGR) (70.0%, 28/40), cardiovascular defects (30.0%, 12/40), polyhydramnios (17.5%, 7/40) and protruding tongue (15.0%, 6/40). Fetal autopsy reports were available for 11 cases and were compared with ultrasound prenatal features. Four cases of fetuses with 7q11.23 microduplication were collected and prenatal ultrasound signs were variable and often isolated. 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.
dc.language.isoENen_US
dc.rightsAttribution-NonCommercial 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by-nc/3.0/us/*
dc.subject.enWilliams syndrome
dc.subject.en7q11.23 microduplication
dc.subject.enPrenatal diagnosis
dc.title.enAntenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
dc.title.alternativePrenat Diagnen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1002/pd.6340en_US
dc.subject.halSciences du Vivant [q-bio]/Génétique/Génétique humaineen_US
dc.identifier.pubmed36914926en_US
bordeaux.journalPrenatal Diagnosisen_US
bordeaux.page734-745en_US
bordeaux.volume43en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue6en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.import.sourcepubmed
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exportfalse
workflow.import.sourcepubmed
dc.rights.ccCC BY-NCen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Prenatal%20Diagnosis&rft.date=2023-03-06&rft.volume=43&rft.issue=6&rft.spage=734-745&rft.epage=734-745&rft.eissn=0197-3851&rft.issn=0197-3851&rft.au=COURDIER,%20C%C3%A9cile&BOUDJARANE,%20John&MALAN,%20Val%C3%A9rie&MUTI,%20Christine&SPERELAKIS-BEEDHAM,%20Brian&rft.genre=article


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