Array comparative genomic hybridization in confirmation of the deleted genes in a patient with subterminal deletion of the long arm of chromosome 10 associated with sagittal craniosynostosis and dysmorphic features

Abstract

Craniosynostosis results from premature ossification of one or more cranial sutures and leads to alterations in the shape of the skull and/or premature closure of cranial fontanels, causing impairment of brain perfusion, vision and hearing, airway obstruction, learning difficulties, severe cosmetic deformities and high intracranial pressure [1]. To date, the genetic mechanisms leading to sagittal craniosynostosis are poorly known. The identification of candidate genes underlying this condition may contribute to elucidation of the etiology of this common malformation. The aim of this study was to associate genotype-phenotype of a patient with a deletion in the long arm of chromosome 10 and craniosynostosis.