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 array-based comparative genome hybridisation

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 array-based comparative genome hybridisation

Author Jehee, F. S. Google Scholar
Krepischi-Santos, A. C. V. Google Scholar
Rocha, K. M. Google Scholar
Cavalcanti, D. P. Google Scholar
Kim, C. A. Google Scholar
Bertola, D. R. Google Scholar
Alonso, L. G. Autor UNIFESP Google Scholar
D'Angelo, C. S. Google Scholar
Mazzeu, J. F. Google Scholar
Froyen, G. Google Scholar
Lugtenberg, D. Google Scholar
Vianna-Morgante, A. M. Google Scholar
Rosenberg, C. Google Scholar
Passos-Bueno, M. R. Google Scholar
Institution Universidade de São Paulo (USP)
Universidade Estadual de Campinas (UNICAMP)
Universidade Federal de São Paulo (UNIFESP)
Katholieke Univ Leuven
VIB
Radboud Univ Nijmegen
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 ligation-dependent 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.
Language English
Date 2008-07-01
Published in Journal of Medical Genetics. London: B M J Publishing Group, v. 45, n. 7, p. 447-450, 2008.
ISSN 0022-2593 (Sherpa/Romeo, impact factor)
Publisher B M J Publishing Group
Extent 447-450
Origin http://dx.doi.org/10.1136/jmg.2007.057042
Access rights Closed access
Type Article
Web of Science ID WOS:000257289000008
URI http://repositorio.unifesp.br/handle/11600/30794

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