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  5. Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά) - ΙΑΤ
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Please use this identifier to cite or link to this item: https://olympias.lib.uoi.gr/jspui/handle/123456789/19299
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dc.contributor.authorSyrrou, M.en
dc.contributor.authorBorghgraef, M.en
dc.contributor.authorFryns, J. P.en
dc.date.accessioned2015-11-24T18:58:38Z-
dc.date.available2015-11-24T18:58:38Z-
dc.identifier.issn0148-7299-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/19299-
dc.rightsDefault Licence-
dc.subjectAbnormalities, Multiple/*genetics/pathologyen
dc.subjectAdolescenten
dc.subjectChromosome Bandingen
dc.subjectChromosome Deletionen
dc.subject*Chromosome Disordersen
dc.subjectChromosomes, Human, Pair 4/geneticsen
dc.subjectFace/abnormalitiesen
dc.subjectFemaleen
dc.subjectHumansen
dc.subjectIn Situ Hybridization, Fluorescenceen
dc.subjectIntellectual Disability/*pathologyen
dc.subjectKaryotypingen
dc.subjectMosaicismen
dc.subjectSyndromeen
dc.titleUnusual chromosomal mosaicism in Wolf-Hirschhorn syndrome: del(4)(p16)/der(4)(qter-q31.3::pter-qter)en
heal.typejournalArticle-
heal.type.enJournal articleen
heal.type.elΆρθρο Περιοδικούel
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/11754044-
heal.identifier.secondaryhttp://onlinelibrary.wiley.com/store/10.1002/1096-8628(20011201)104:3<199::AID-AJMG10058>3.0.CO;2-4/asset/10058_ftp.pdf?v=1&t=h0dim1ku&s=27c8dca32180deafdf1cec636e0c5c07f546e317-
heal.languageen-
heal.accesscampus-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.publicationDate2001-
heal.abstractWe report on the unusual cytogenetic findings in a girl with moderate mental retardation and a mosaic karyotype 46,XX,del(4)(p16)/46,XX,der(4)(qter-q31.3::pter-qter). The facial features observed in the child initially did not suggest the diagnosis of Wolf-Hirschhorn syndrome (WHS), but the distinct facial gestalt became obvious at prepubertal age. Fluorescence in situ hybridization (FISH) analysis with different probes that map to 4p and 4q helped to clarify the karyotype. We discuss the mechanism of appearance of this unusual type of mosaicism, which has not been reported before.en
heal.journalNameAm J Med Geneten
heal.journalTypepeer-reviewed-
heal.fullTextAvailabilityTRUE-
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