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https://olympias.lib.uoi.gr/jspui/handle/123456789/22873Full metadata record
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Manolakos, E. | en |
| dc.contributor.author | Kosyakova, N. | en |
| dc.contributor.author | Thomaidis, L. | en |
| dc.contributor.author | Neroutsou, R. | en |
| dc.contributor.author | Weise, A. | en |
| dc.contributor.author | Mihalatos, M. | en |
| dc.contributor.author | Orru, S. | en |
| dc.contributor.author | Kokotas, H. | en |
| dc.contributor.author | Kitsos, G. | en |
| dc.contributor.author | Liehr, T. | en |
| dc.contributor.author | Petersen, M. B. | en |
| dc.date.accessioned | 2015-11-24T19:28:07Z | - |
| dc.date.available | 2015-11-24T19:28:07Z | - |
| dc.identifier.issn | 1755-8166 | - |
| dc.identifier.uri | https://olympias.lib.uoi.gr/jspui/handle/123456789/22873 | - |
| dc.rights | Default Licence | - |
| dc.title | 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 | en |
| heal.type | journalArticle | - |
| heal.type.en | Journal article | en |
| heal.type.el | Άρθρο Περιοδικού | el |
| heal.identifier.primary | 10.1186/1755-8166-1-24 | - |
| heal.identifier.secondary | http://www.ncbi.nlm.nih.gov/pubmed/19014423 | - |
| heal.identifier.secondary | http://www.molecularcytogenetics.org/content/pdf/1755-8166-1-24.pdf | - |
| heal.language | en | - |
| heal.access | campus | - |
| heal.recordProvider | Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής | el |
| heal.publicationDate | 2008 | - |
| heal.abstract | We 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.journalName | Mol Cytogenet | en |
| heal.journalType | peer-reviewed | - |
| heal.fullTextAvailability | TRUE | - |
| Appears in Collections: | Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά) - ΙΑΤ | |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| Manolakos-2008-Complex chromosome r.pdf | 463.83 kB | Adobe PDF | View/Open |
This item is licensed under a Creative Commons License
