Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report

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dc.contributor.authorManolakos, E.en
dc.contributor.authorKosyakova, N.en
dc.contributor.authorThomaidis, L.en
dc.contributor.authorNeroutsou, R.en
dc.contributor.authorWeise, A.en
dc.contributor.authorMihalatos, M.en
dc.contributor.authorOrru, S.en
dc.contributor.authorKokotas, H.en
dc.contributor.authorKitsos, G.en
dc.contributor.authorLiehr, T.en
dc.contributor.authorPetersen, M. B.en
dc.date.accessioned2015-11-24T19:28:07Z
dc.date.available2015-11-24T19:28:07Z
dc.identifier.issn1755-8166-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/22873
dc.rightsDefault Licence-
dc.titleComplex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case reporten
heal.abstractWe report on a 7 years and 4 months old Greek boy with mild microcephaly and dysmorphic facial features. He was a sociable child with maxillary hypoplasia, epicanthal folds, upslanting palpebral fissures with long eyelashes, and hypertelorism. His ears were prominent and dysmorphic, he had a long philtrum and a high arched palate. His weight was 17 kg (25th percentile) and his height 120 cm (50th percentile). High resolution chromosome analysis identified in 50% of the cells a normal male karyotype, and in 50% of the cells one chromosome 18 showed a terminal deletion from 18q21.32. Molecular cytogenetic investigation confirmed a del(18)(q21.32-qter) in the one chromosome 18, but furthermore revealed the presence of a duplication in q21.2 in the other chromosome 18. The case is discussed concerning comparable previously reported cases and the possible mechanisms of formation.en
heal.accesscampus-
heal.fullTextAvailabilityTRUE-
heal.identifier.primary10.1186/1755-8166-1-24-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/19014423-
heal.identifier.secondaryhttp://www.molecularcytogenetics.org/content/pdf/1755-8166-1-24.pdf-
heal.journalNameMol Cytogeneten
heal.journalTypepeer-reviewed-
heal.languageen-
heal.publicationDate2008-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.typejournalArticle-
heal.type.elΆρθρο Περιοδικούel
heal.type.enJournal articleen

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