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 (Journal article)
Manolakos, E./ Kosyakova, N./ Thomaidis, L./ Neroutsou, R./ Weise, A./ Mihalatos, M./ Orru, S./ Kokotas, H./ Kitsos, G./ Liehr, T./ Petersen, M. B.
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.
Institution and School/Department of submitter: | Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής |
URI: | https://olympias.lib.uoi.gr/jspui/handle/123456789/22873 |
ISSN: | 1755-8166 |
Link: | http://www.ncbi.nlm.nih.gov/pubmed/19014423 http://www.molecularcytogenetics.org/content/pdf/1755-8166-1-24.pdf |
Appears in Collections: | Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά) |
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File | Description | Size | Format | |
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Manolakos-2008-Complex chromosome r.pdf | 463.83 kB | Adobe PDF | View/Open |
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https://olympias.lib.uoi.gr/jspui/handle/123456789/22873
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