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

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.

SUBMITTER: Tassano E

PROVIDER: S-EPMC4115490 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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

Tassano Elisa E Accogli Andrea A Panigada Serena S Ronchetto Patrizia P Cuoco Cristina C Gimelli Giorgio G

Molecular cytogenetics 20140721

<h4>Background</h4>Interstitial deletions of chromosome bands 14q24.1q24.3 are very rare with only three reported cases.<h4>Results</h4>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.<h4>Conclusion</h4>The deleted region contains numerous genes, but we focused ou ...[more]

PMID: 25076984

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