ArticleMolecular cytogenetics2016
14q32.3-qter trisomic segment: a case report and literature review.
Article in Molecular cytogenetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed.
- Congenital hyperinsulinemic hypoglycaemia in an infant with 9p deletion syndrome.Annals of pediatric endocrinology & metabolism · 2025Article
- Review
- Clinical and molecular characterization of 12 prenatal cases of Cri-du-chat syndrome.Molecular genetics & genomic medicine · 2020Article
- Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases.International journal of molecular sciences · 2020Article
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10 authors.
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Abstract
backgroundSegmental duplication of the long arm of chromosome 14 (14q) has commonly been reported to affect the proximal segment of 14q, while distal duplication is a rare condition and often associated with segmental monosomy of other chromosomes. CASE PRESENTATION: We report the clinical and genetic characterization of a 4-year-old male patient with 14q32.3-qter trisomy resulting from an adjacent segregation of a paternal reciprocal translocation (14;21)(q32.1;p12). The child shows minor facial anomalies, severe developmental delay, growth retardation, and a history of congenital hypothyroidism and neonatal transitory hyperglycemic crises.
conclusionsTo the best of our knowledge, only 15 other cases of segmental 14q trisomy were documented. We compared molecularly defined cases to identify a minimal common duplicated region and to find genes with a hypothetical role in the phenotype. The presented case supports the previous suggestion of a pure "distal 14q partial duplication" and underlines the clinical variability.
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