ArticleMolecular cytogenetics2014
Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion.
Article in Molecular cytogenetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 4 citations in OpenAlex.
- Molecular mechanisms of sulforaphane in Alzheimer's disease: insights from an in-silico study.In silico pharmacology · 2024Article
- Primary biliary cholangitis with features of autoimmune hepatitis in a 19-year-old adolescent with 14q24.1q24.2 deletion: a case report.Frontiers in pediatrics · 2023Article
- Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability.Annals of laboratory medicine · 2018Article
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6 authors at 1 institution in 1 country.
Funding
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Abstract
backgroundInterstitial deletions of chromosome bands 14q24.1q24.3 are very rare with only three reported cases.
resultsWe 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.
conclusionThe 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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