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

Internet

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

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