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dc.contributor.authorEggermann, Thomasen
dc.contributor.authorBrioude, Frédéricen
dc.contributor.authorRusso, Silviaen
dc.contributor.authorLombardi, Maria Paolaen
dc.contributor.authorBliek, Jeten
dc.contributor.authorMaher, Eamonnen
dc.contributor.authorLarizza, Lidiaen
dc.contributor.authorPrawitt, Dirken
dc.contributor.authorNetchine, Iréneen
dc.contributor.authorGonzales, Marieen
dc.contributor.authorGrønskov, Karenen
dc.contributor.authorTümer, Zeynepen
dc.contributor.authorMonk, Daviden
dc.contributor.authorMannens, Marcelen
dc.contributor.authorChrzanowska, Krystynaen
dc.contributor.authorKrajewska, Walasek Malgorzataen
dc.contributor.authorBegemann, Matthiasen
dc.contributor.authorSoellner, Lukasen
dc.contributor.authorEggermann, Katjaen
dc.contributor.authorTenorio, Jairen
dc.contributor.authorNevado, Juliánen
dc.contributor.authorMoore, Gudrun Een
dc.contributor.authorMackay, Deborah JGen
dc.contributor.authorTemple, Karenen
dc.contributor.authorGillessen-Kaesbach, Gabrieleen
dc.contributor.authorOgata, Tsutomuen
dc.contributor.authorWeksberg, Rosannaen
dc.contributor.authorAlgar, Elizabethen
dc.contributor.authorLapunzina, Pabloen
dc.date.accessioned2015-10-15T12:18:40Z
dc.date.available2015-10-15T12:18:40Z
dc.date.issued2015-10-28en
dc.identifier.citationEuropean Journal of Human Genetics 2015. doi:10.1038/ejhg.2015.224en
dc.identifier.issn1018-4813
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/252327
dc.description.abstractBeckwith–Wiedemann and Silver–Russell syndromes (BWS/SRS) are two imprinting disorders (IDs) associated with disturbances of the 11p15.5 chromosomal region. In BWS, epimutations and genomic alterations within 11p15.5 are observed in >70% of patients, whereas in SRS they are observed in about 60% of the cases. In addition, 10% of the SRS patients carry a maternal uniparental disomy of chromosome 7 11p15.5. There is an increasing demand for prenatal testing of these disorders owing to family history, indicative prenatal ultrasound findings or aberrations involving chromosomes 7 and 11. The complex molecular findings underlying these disorders are a challenge not only for laboratories offering these tests but also for geneticists counseling affected families. The scope of counseling must consider the range of detectable disturbances and their origin, the lack of precise quantitative knowledge concerning the inheritance and recurrence risks for the epigenetic abnormalities, which are hallmarks of these developmental disorders. In this paper, experts in the field of BWS and SRS, including members of the European network of congenital IDs (EUCID.net; www.imprinting-disorders.eu), put together their experience and work in the field of 11p15.5-associated IDs with a focus on prenatal testing. Altogether, prenatal tests of 160 fetuses (122 referred for BWS, 38 for SRS testing) from 5 centers were analyzed and reviewed. We summarize the current knowledge on BWS and SRS with respect to diagnostic testing, the consequences for prenatal genetic testing and counseling and our cumulative experience in dealing with these disorders.
dc.description.sponsorshipThe authors are members of the COST Action BM1208 and EUCID.net (European congenital imprinting disorders network; www.imprinting-disorders.eu). TE, MB, LS, KE and DP are supported by the Bundesministerium für Bildung und Forschung (Network “Imprinting Diseases”, 01GM1513B/C). KCH and MK-W by National Science Centre projects No. 1149/B/P01/2011/40 (NN407114940) and 2853/B/P01/2010/39 (NN407285339). PL is supported by a Grant of the Ministry of Science (ISCIII, PI 11/02491). FB and IN are funded by INSERM, UPMC Paris 6 funding, and EPIFEGRO2010 (Novonordisk grant). SR and LL are funded by the Ministero della Salute (IT) (08C207_2012).
dc.languageEnglishen
dc.language.isoenen
dc.publisherNPG
dc.subjectBeckwith-Wiedemann syndromeen
dc.subjectSilver-Russell syndromeen
dc.subjectprenatal diagnosisen
dc.subjectmolecular genetic testingen
dc.subjectimprinting disordersen
dc.titlePrenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: A challenge for molecular analysis and genetic counselingen
dc.title.alternativePrenatal testing in Silver-Russell and Beckwith Wiedemann syndromeen
dc.typeArticle
dc.description.versionThis is the author accepted manuscript. The final version is available from NPG via https://doi.org/10.1038/ejhg.2015.224en
prism.endingPage793
prism.publicationDate2015en
prism.publicationNameEuropean Journal of Human Geneticsen
prism.startingPage784
prism.volume24en
dcterms.dateAccepted2015-09-11en
rioxxterms.versionofrecord10.1038/ejhg.2015.224en
rioxxterms.versionAM
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserveden
rioxxterms.licenseref.startdate2015-10-28en
dc.contributor.orcidMaher, Eamonn [0000-0002-6226-6918]
dc.identifier.eissn1476-5438
rioxxterms.typeJournal Article/Reviewen
rioxxterms.freetoread.startdate2016-04-28


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