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Article

Mapping of the Down syndrome phenotype on chromosome 21 at the molecular level.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie - 1 Jan 1994

Sinet P M, Théophile D, Rahmani Z, Chettouh Z, Blouin J L, Prieur M, Noel B, Delabar J M

Abstract excerpt

Phenotypic and molecular analysis of individuals with partial trisomy 21 can be used to determine which regions of chromosome 21 are involved in the pathogenesis of specific features of Down's Syndrome. Using dosage analysis of 27 sequences we defined, at the molecular level, the extent of the chromosome 21 duplication in ten individuals with partial trisomy 21. Phenotype-genotype correlations led to the...

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Identifiers

PMID: 7999986
DOI: 10.1016/0753-3322(94)90140-6

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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