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Article

Partial trisomy and tetrasomy of chromosome 21 without Down Syndrome phenotype and short overview of genotype-phenotype correlation. A case report.

Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia - 1 Jun 2014

Capkova Pavlina, Misovicova Nadezda, Vrbicka Dita

Abstract excerpt

AIMS: Trisomy of chromosome 21 is associated with Down syndrome (DS) - the commonest genetic cause of mental retardation. We report two unusual cases with partial trisomy of chromosome 21 and tetrasomy of chromosome 21 without DS phenotype. We include a short overview of the genotype-phenotype correlation studies in discussion. METHODS: Conventional chromosomal analysis, fluorescent in situ hybridisation (FISH),...

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Identifiers

PMID: 24145769
DOI: 10.5507/bp.2013.077

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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