Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/120050
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dc.contributor.authorTenorio, J.en
dc.contributor.authorRomanelli, V.en
dc.contributor.authorMartin-Trujillo, A.en
dc.contributor.authorFernández, G.en
dc.contributor.authorSegovia, M.en
dc.contributor.authorPerandones, C.en
dc.contributor.authorPérez Jurado, L.en
dc.contributor.authorEsteller, M.en
dc.contributor.authorFraga, M.en
dc.contributor.authorArias, P.en
dc.contributor.authorGordo, G.en
dc.contributor.authorDapía, I.en
dc.contributor.authorMena, R.en
dc.contributor.authorPalomares, M.en
dc.contributor.authorPérez de Nanclares, G.en
dc.contributor.authorNevado, J.en
dc.contributor.authorGarcía-Miñaur, S.en
dc.contributor.authorSantos-Simarro, F.en
dc.contributor.authorMartinez-Glez, V.en
dc.contributor.authorVallespín, E.en
dc.contributor.authoret al.en
dc.date.issued2016en
dc.identifier.citationAmerican Journal of Medical Genetics, Part A, 2016; 170(10):2740-2749en
dc.identifier.issn1552-4825en
dc.identifier.issn1552-4833en
dc.identifier.urihttp://hdl.handle.net/2440/120050-
dc.description.abstractBeckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by an excessive prenatal and postnatal growth, macrosomia, macroglossia, and hemihyperplasia. The molecular basis of this syndrome is complex and heterogeneous, involving genes located at 11p15.5. BWS is correlated with assisted reproductive techniques. BWS in individuals born following assisted reproductive techniques has been found to occur four to nine times higher compared to children with to BWS born after spontaneous conception. Here, we report a series of 187 patients with to BWS born either after assisted reproductive techniques or conceived naturally. Eighty-eight percent of BWS patients born via assisted reproductive techniques had hypomethylation of KCNQ1OT1:TSS-DMR in comparison with 49% for patients with BWS conceived naturally. None of the patients with BWS born via assisted reproductive techniques had hypermethylation of H19/IGF2:IG-DMR, neither CDKN1 C mutations nor patUPD11. We did not find differences in the frequency of multi-locus imprinting disturbances between groups. Patients with BWS born via assisted reproductive techniques had an increased frequency of advanced bone age, congenital heart disease, and decreased frequency of earlobe anomalies but these differences may be explained by the different molecular background compared to those with BWS and spontaneous fertilization. We conclude there is a correlation of the molecular etiology of BWS with the type of conception. © 2016 Wiley Periodicals, Inc.en
dc.description.statementofresponsibilityJair Tenorio, Valeria Romanelli, Alex Martin‐Trujillo, García‐Moya Fernández Mabel Segovia ... Luis A. Perez-Jurado ... et al.en
dc.language.isoenen
dc.publisherWileyen
dc.rights© 2016 Wiley Periodicals, Inc.en
dc.subjectGenome‐wide hypomethylation; assisted reproductive techniques; Beckwith–Wiedemann syndrome; imprinting disorders; multi‐locus imprinting disturbance; KCNQ1OT1:TSS‐DMR; H19/IGF2:IG‐DMRen
dc.titleClinical and molecular analyses of Beckwith–Wiedemann syndrome: comparison between spontaneous conception and assisted reproduction techniquesen
dc.typeJournal articleen
dc.identifier.rmid0030079582en
dc.identifier.doi10.1002/ajmg.a.37852en
dc.identifier.pubid388510-
pubs.library.collectionGenetics publicationsen
pubs.library.teamDS10en
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
dc.identifier.orcidPérez Jurado, L. [0000-0002-1988-3005]en
Appears in Collections:Genetics publications

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