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

Elisa Tassano, Andrea Accogli, Serena Panigada, Patrizia Ronchetto, Cristina Cuoco, Giorgio Gimelli

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Article number49
JournalMolecular Cytogenetics
Volume7
Issue number1
DOIs
Publication statusPublished - Jul 21 2014

Keywords

  • Array-CGH
  • De novo
  • Genotype-phenotype correlation
  • Interstitial 14q24.1q24.3 deletion

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology
  • Genetics(clinical)
  • Biochemistry
  • Molecular Medicine
  • Biochemistry, medical

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