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

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, cong...

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Detalles Bibliográficos
Autores principales: Tassano, Elisa, Accogli, Andrea, Panigada, Serena, Ronchetto, Patrizia, Cuoco, Cristina, Gimelli, Giorgio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4115490/
https://www.ncbi.nlm.nih.gov/pubmed/25076984
http://dx.doi.org/10.1186/1755-8166-7-49
Descripción
Sumario: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.

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