First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25)

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dc.authoridatli, emine ikbal/0000-0001-9003-1449
dc.authoridGurkan, Hakan/0000-0002-8967-6124
dc.authoridDemir, Selma/0000-0002-0964-5513
dc.authorwosidatli, emine ikbal/AAN-5060-2020
dc.authorwosidDemir, Selma/A-1500-2018
dc.contributor.authorYalcintepe, Sinem
dc.contributor.authorZhuri, Drenushe
dc.contributor.authorSezginer Guler, Hazal
dc.contributor.authorAtli, Engin
dc.contributor.authorDemir, Selma
dc.contributor.authorAtli, Emine Ikbal
dc.contributor.authorMail, Cisem
dc.date.accessioned2024-06-12T11:07:18Z
dc.date.available2024-06-12T11:07:18Z
dc.date.issued2022
dc.departmentTrakya Üniversitesien_US
dc.description.abstractJacobsen syndrome is a rare congenital disorder that is caused by the deletion of several genes in chromosome 11. A 10-year-old female with congenital heart disease, dextrocardia, and coarse facial appearance was examined in our medical genetics clinic. Chromosome analysis and array-CGH showed a copy number loss of 9 Mb in the 11q24.2q25 region. Herein, we report her clinical findings. This is the first case of Jacobsen syndrome with dextrocardia.en_US
dc.identifier.doi10.1159/000519149
dc.identifier.endpage239en_US
dc.identifier.issn1661-8769
dc.identifier.issn1661-8777
dc.identifier.issue3en_US
dc.identifier.pmid35707598en_US
dc.identifier.scopus2-s2.0-85124528590en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage235en_US
dc.identifier.urihttps://doi.org/10.1159/000519149
dc.identifier.urihttps://hdl.handle.net/20.500.14551/21988
dc.identifier.volume13en_US
dc.identifier.wosWOS:000750616500001en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherKargeren_US
dc.relation.ispartofMolecular Syndromologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectJacobsen Syndromeen_US
dc.subjectDextrocardiaen_US
dc.subjectArray-CGHen_US
dc.subjectCongenital Heart Diseaseen_US
dc.subjectDeletion 11qen_US
dc.subjectInterstitial 11q24 Deletionen_US
dc.subjectParis-Trousseau-Syndromeen_US
dc.subjectPlateletsen_US
dc.subjectDefecten_US
dc.subjectChilden_US
dc.subjectGeneen_US
dc.titleFirst Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25)en_US
dc.typeArticleen_US

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