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)

Files in This Item:
File Description SizeFormat 
Manolakos-2008-Complex chromosome r.pdf463.83 kBAdobe PDFView/Open


 Please use this identifier to cite or link to this item:
https://olympias.lib.uoi.gr/jspui/handle/123456789/22873
  This item is a favorite for 0 people.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.