ARRAY-CGH AND CLINICAL FINDINGS IN A PATIENT WITH A SMALL SUPERNUMERARY r(8) MOSAICISM

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dc.authoridCine, Naci/0000-0001-9063-1073;
dc.contributor.authorEyupoglu, F. Celep
dc.contributor.authorSunnetci, D.
dc.contributor.authorCine, N.
dc.contributor.authorSavli, H.
dc.contributor.authorOkten, A.
dc.contributor.authorAcikgoz, E. Gul
dc.contributor.authorSonmez, F. M.
dc.date.accessioned2025-10-24T18:10:34Z
dc.date.available2025-10-24T18:10:34Z
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 phenotype 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 8p11.21-q21.13. Mosaicism for a ring chromosome was showed by routine karyotyping that revealed a karyotype of mos47,XY,+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 (p11.21-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 8p11.21-q21.13 along with clinical properties, is described and compared to previously reported cases involving partial trisomy 8q.
dc.identifier.endpage313
dc.identifier.issn1015-8146
dc.identifier.issue3
dc.identifier.pmid25365853
dc.identifier.startpage305
dc.identifier.urihttps://hdl.handle.net/20.500.12899/4262
dc.identifier.volume25
dc.identifier.wosWOS:000343073900008
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherMedecine Et Hygiene
dc.relation.ispartofGenetic Counseling
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_20251023
dc.subjectArray-CGH; Mosaicism; Small supernumerary ring chromosome 8; Partial trisomy 8
dc.titleARRAY-CGH AND CLINICAL FINDINGS IN A PATIENT WITH A SMALL SUPERNUMERARY r(8) MOSAICISM
dc.typeArticle

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