A CASE WITH EMANUEL SYNDROME: EXTRA DERIVATIVE 22 CHROMOSOME INHERITED FROM THE MOTHER

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dc.authoridGürkan, Hakan/0000-0002-8967-6124
dc.authoridatli, emine ikbal/0000-0001-9003-1449
dc.authoridDemir, Selma/0000-0002-0964-5513
dc.authorwosidGürkan, Hakan/AAF-2866-2020
dc.authorwosidatli, emine ikbal/AAN-5060-2020
dc.authorwosidDemir, Selma/A-1500-2018
dc.contributor.authorAtli, Ikbal E.
dc.contributor.authorGurkan, H.
dc.contributor.authorVatansever, U.
dc.contributor.authorUlusal, S.
dc.contributor.authorTozkir, H.
dc.date.accessioned2024-06-12T11:00:13Z
dc.date.available2024-06-12T11:00:13Z
dc.date.issued2015
dc.departmentTrakya Üniversitesien_US
dc.description.abstractEmanuel syndrome (ES) is a rare chromosomal disorder that is characterized by multiple congenital anomalies and developmental disabilities. Affected children are usually identified in the newborn period as the offspring of balanced (11; 22) translocation carriers. Carriers of this balanced translocation usually have no clinical symptoms and are often identified after the birth of offspring with an unbalanced form of the translocation, the supernumerary der(22) t(11; 22) syndrome. We report a 3-year-old boy with the t(11;22)(q23;q11) chromosome, transmitted in an unbalanced fashion from his mother. He has several developmental delays; he is not independently ambulatory and language is significantly impaired. Using his peripheral blood, karyotyping was performed to define his multiple congenital anomalies, revealing the following chromosomal abnormality: 47,XY,+der(22)t(11;22)(q23.3;q11.2). To ascertain the origin and trait of this supernumerary marker chromosome [der(22)t(11;22)(q23.3;q11.2)], karyotyping of his parents was performed. The mother was found to be a balanced carrier: 46,XX,t(11;22)(q23.3;q11.2).en_US
dc.identifier.doi10.1515/bjmg-2015-0089
dc.identifier.endpage81en_US
dc.identifier.issn1311-0160
dc.identifier.issue2en_US
dc.identifier.pmid27785401en_US
dc.identifier.scopus2-s2.0-84968919568en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage77en_US
dc.identifier.urihttps://doi.org/10.1515/bjmg-2015-0089
dc.identifier.urihttps://hdl.handle.net/20.500.14551/20753
dc.identifier.volume18en_US
dc.identifier.wosWOS:000375181600011en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherMacedonian Acad Sciences Artsen_US
dc.relation.ispartofBalkan Journal Of Medical Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectEmanuel Syndrome (ES)en_US
dc.subjectKaryotypingen_US
dc.subjectSupernumeraryen_US
dc.subjectTranslocationen_US
dc.titleA CASE WITH EMANUEL SYNDROME: EXTRA DERIVATIVE 22 CHROMOSOME INHERITED FROM THE MOTHERen_US
dc.typeArticleen_US

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