RT Journal Article
SR Electronic
T1 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
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 447
OP 450
DO 10.1136/jmg.2007.057042
VO 45
IS 7
A1 F S Jehee
A1 A C V Krepischi-Santos
A1 K M Rocha
A1 D P Cavalcanti
A1 C A Kim
A1 D R Bertola
A1 L G Alonso
A1 C S D’Angelo
A1 J F Mazzeu
A1 G Froyen
A1 D Lugtenberg
A1 A M Vianna-Morgante
A1 C Rosenberg
A1 M R Passos-Bueno
YR 2008
UL http://jmg.bmj.com/content/45/7/447.abstract
AB 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.