We present the first comprehensive study on genomic chromosomal analysis in syndromic craniosynostosis. Forty-five patients, excluded for the common monogenic craniosynostotic disorders, were screened with a variety of methods including conventional karyotype, microsatellite segregation analysis, subtelomeric Multiplex Ligation-dependent Probe Amplification (MLPA) and whole-genome array-CGH. 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 those cases involving the metopic suture.
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