Yayın:
Multiple congenital anomalies in a child with 47,XY,+der(8;9)(p10;p10): A case report

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dc.contributor.authorGörükmez, O.
dc.contributor.authorGörükmez, Orhan
dc.contributor.authorSağ, Şebnem Özemri
dc.contributor.authorYakut, T.
dc.contributor.authorGülten, Tuna
dc.contributor.buuauthorGörükmez, Orhan
dc.contributor.buuauthorÖZEMRİ SAĞ, ŞEBNEM
dc.contributor.buuauthorYakut, T.
dc.contributor.buuauthorGülten, Tuna
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentGenetik Bölümü
dc.contributor.orcid0000-0002-9241-0896
dc.contributor.orcid0000-0002-8661-6126
dc.contributor.researcheridAAH-8355-2021
dc.contributor.researcheridAFZ-0764-2022
dc.contributor.researcheridGIS-1493-2022
dc.contributor.researcheridEYU-9227-2022
dc.contributor.scopusid56681045900
dc.contributor.scopusid36638231300
dc.contributor.scopusid6602802424
dc.contributor.scopusid6505944216
dc.date.accessioned2024-08-12T06:30:01Z
dc.date.available2024-08-12T06:30:01Z
dc.date.issued2015-01-01
dc.description.abstractMultiple congenital anomalies in a child with 47,XY,+der(8;9)(p10;p10): a case report: Complex small supernumerary marker chromosomes (sSMC) constitute one of the smallest subgroups of sSMC in general. Complex sSMC consist of chromosomal material derived from more than one chromosome. We report a complex sSMC derived from chromosomes 9 and 8, characterized as der(8;9)(p10;p10) resulting from unbalanced transition of maternal balanced translocation. Besides dysmorphic face and mental-motor retardation, the patient had Dandy-Walker malformation (DWM) in cranial MR also. As far as we are concerned, this is the first complex sSMC case comprising short arms of 8th and 9th chromosomes.
dc.identifier.endpage169
dc.identifier.issn1015-8146
dc.identifier.issue2
dc.identifier.scopus2-s2.0-84938571279
dc.identifier.startpage163
dc.identifier.urihttps://hdl.handle.net/11452/43883
dc.identifier.volume26
dc.identifier.wos000370466000002
dc.indexed.scopusScopus
dc.indexed.wosWOS.SCI
dc.language.isoen
dc.publisherMedecine Et Hygiene
dc.relation.journalGenetic Counseling
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectSupernumerary marker chromosomes
dc.subjectPartial trisomy 8p
dc.subjectDuplication
dc.subjectTranslocation
dc.subjectAgenesis
dc.subject9p
dc.subjectSsmc trisomy 8p
dc.subjectTrisomy 9p
dc.subjectScience & technology
dc.subjectLife sciences & biomedicine
dc.subjectBiotechnology & applied microbiology
dc.subjectGenetics & heredity
dc.subjectMedical ethics
dc.subjectMedicine, research & experimental
dc.subjectBiotechnology & applied microbiology
dc.subjectGenetics & heredity
dc.subjectMedical ethics
dc.subjectResearch & experimental medicine
dc.titleMultiple congenital anomalies in a child with 47,XY,+der(8;9)(p10;p10): A case report
dc.typeArticle
dspace.entity.typePublication
local.contributor.departmentTıp Fakültesi/Genetik Bölümü
local.indexed.atWOS
local.indexed.atScopus
relation.isAuthorOfPublicationdf8aeae7-a31e-454f-a84a-198138a42763
relation.isAuthorOfPublication.latestForDiscoverydf8aeae7-a31e-454f-a84a-198138a42763

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