Array-cgh and clinical findings in a patient with a small supernumerary r(8) mosaicism

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dc.contributor.authorCelep Eyüpoğlu, Figen
dc.contributor.authorAkkoyunlu Sünnetçi, Deniz
dc.contributor.authorCine, Naci
dc.contributor.authorSavli, Hakan
dc.contributor.authorÖkten
dc.contributor.authorGülaçikgöz, E.
dc.contributor.authorSönmez, Fatma Müjgan
dc.date.accessioned2025-10-24T18:06:52Z
dc.date.available2025-10-24T18:06:52Z
dc.date.issued2014
dc.departmentMalatya Turgut Özal Üniversitesi
dc.description.abstractArray-CGH and clinical findings in a patient with a small supernumerary r(8) mosaicism: Small supernumerary ring chromosomes (sSRC) represent a subset of small supernumerary marker chromosomes (sSMC) where r(8) is relatively common. The phcnotype sSRC(8) ranges from almost normal to variable degrees of abnormalities in mosaic or non-mosaic conditions. We present a new patient of de novo mosaic supernumerary ring chromosome 8 which has trisomy of a region of chromosome 8pll.21-q21.13. Mosaicism for a ring chromosome was showed by routine karyotyping that revealed a karyotype of mos47XY,+r(?) [47]/46 XY [36] and we performed array comparative genomic hybridization (array-CGH) in order to precisely define the extension about chromosomal origin of the duplicated region in a patient. Array-CGH analysis confirmed that the sSRC derived a 43.921 Mb genomic gain of chromosome 8 (pll.21-q21.13). Common clinical features of the patient included multiple congenital anomalies, developmental delay, thoracolumbar scoliosis, mild pulmonary stenosis, laryngomalacia, hypospadias and atypical facial appearance. With this study a patient involving mosaic trisomy 8pll.21-q21.13 along with clinical properties, is described and compared to previously reported cases involving partial trisomy 8q. © 2014 Elsevier B.V., All rights reserved.
dc.identifier.endpage313
dc.identifier.issn1015-8146
dc.identifier.issue3
dc.identifier.pmid25365853
dc.identifier.scopus2-s2.0-84908155792
dc.identifier.scopusqualityN/A
dc.identifier.startpage305
dc.identifier.urihttps://hdl.handle.net/20.500.12899/3245
dc.identifier.volume25
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherEditions Medecine et Hygiene Ch. de la Mousse 46 CP 475, Chene-Bourg CH-1225
dc.relation.ispartofGenetic Counseling
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzScopus_20251023
dc.subjectArray-CGH
dc.subjectMosaicism
dc.subjectPartial trisomy 8
dc.subjectSmall supernumerary ring chromosome 8
dc.titleArray-cgh and clinical findings in a patient with a small supernumerary r(8) mosaicism
dc.typeArticle

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