Molecular cytogenetic characterization and origin of two de novo duplication 9p cases

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dc.contributor.authorTsezou, A.en
dc.contributor.authorKitsiou, S.en
dc.contributor.authorGalla, A.en
dc.contributor.authorPetersen, M. B.en
dc.contributor.authorKaradima, G.en
dc.contributor.authorSyrrou, M.en
dc.contributor.authorSahlen, S.en
dc.contributor.authorBlennow, E.en
dc.date.accessioned2015-11-24T19:04:05Z
dc.date.available2015-11-24T19:04:05Z
dc.identifier.issn0148-7299-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/19969
dc.rightsDefault Licence-
dc.subjectChromosome Bandingen
dc.subjectChromosome Inversionen
dc.subject*Chromosomes, Human, Pair 9en
dc.subjectDevelopmental Disabilities/*geneticsen
dc.subjectFace/*abnormalitiesen
dc.subject*Gene Duplicationen
dc.subjectHumansen
dc.subjectIn Situ Hybridization, Fluorescenceen
dc.subjectInfanten
dc.subjectMaleen
dc.subjectMicrosatellite Repeatsen
dc.subjectNucleic Acid Hybridizationen
dc.subjectPolymorphism, Geneticen
dc.subjectSequence Analysis, DNAen
dc.titleMolecular cytogenetic characterization and origin of two de novo duplication 9p casesen
heal.abstractWe report on two additional cases with duplication of 9p, minor with facial anomalies and developmental delay. Using fluorescence in situ hybridization and single-copy probes, we showed that the first case was a direct duplication, whereas the second case was inverted. The extent of the direct duplication was defined as 9p12 --> p24 by microdissection and microcloning of the aberrant chromosome and subsequent chromosome-specific comparative genomic hybridization. DNA polymorphism analysis with eight microsatellite markers revealed that the origin of the dup(9p) was maternal in the first case, whereas it was paternal in the second.en
heal.accesscampus-
heal.fullTextAvailabilityTRUE-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/10748406-
heal.identifier.secondaryhttp://onlinelibrary.wiley.com/store/10.1002/(SICI)1096-8628(20000313)91:2<102::AID-AJMG4>3.0.CO;2-5/asset/4_ftp.pdf?v=1&t=h0dip3pe&s=3de8699d7f1de5aff5821cbefae7f8c017240856-
heal.journalNameAm J Med Geneten
heal.journalTypepeer-reviewed-
heal.languageen-
heal.publicationDate2000-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.typejournalArticle-
heal.type.elΆρθρο Περιοδικούel
heal.type.enJournal articleen

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