Please use this identifier to cite or link to this item:
Type: Artigo
Title: High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and arraybased comparative genome hybridisation
Author: Jehee, F S
Krepischi-Santos, A C V
Rocha, K M
Cavalcanti, D P
Kim, C A
Bertola, D R
Alonso, L G
D’Angelo, C S
Mazzeu, J F
Froyen, G
Lugtenberg, D
Vianna-Morgante, A M
Rosenberg, C
Passos-Bueno, M R
Abstract: We present the first comprehensive study, to our knowledge, on genomic chromosomal analysis in syndromic craniosynostosis. In total, 45 patients with craniosynostotic disorders were screened with a variety of methods including conventional karyotype, microsatellite segregation analysis, subtelomeric multiplex ligationdependent probe amplification) and whole-genome array-based comparative genome hybridisation. Causative abnormalities were present in 42.2% (19/45) of the samples, and 27.8% (10/36) of the patients with normal conventional karyotype carried submicroscopic imbalances. Our results include a wide variety of imbalances and point to novel chromosomal regions associated with craniosynostosis. The high incidence of pure duplications or trisomies suggests that these are important mechanisms in craniosynostosis, particularly in cases involving the metopic suture
Subject: Cromossomos
Microssatélites (Genética)
Country: França
Editor: Elsevier
Rights: Fechado
Identifier DOI: 10.1136/jmg.2007.057042
Date Issue: 2008
Appears in Collections:FCM - Artigos e Outros Documentos

Files in This Item:
File Description SizeFormat 
000257289000008.pdf287.73 kBAdobe PDFView/Open

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