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Background  Interstitial deletions of chromosome bands 14q24.1q24.3 are very rare with only three reported cases.    Results  We describe a 7-year-old boy with a 5.345 Mb  de novo  interstitial deletion at 14q24.1q24.3 band detected by array-CGH who had a complex phenotype characterized by seizures, congenital heart defects, dysmorphisms, psychomotor delay, and bronchopulmonary, skeletal, and brain anomalies.    Conclusion  The deleted region contains numerous genes, but we focused our attention on three of them (C14orf169,  NUMB,  and  PSEN1 ), which could account, at least partially, for the phenotype of the boy. We therefore discuss the involvement of these genes and the observed phenotype compared to that of previously described patients.

Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion