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Article

Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype.

Human molecular genetics - 15 Jun 2016

Pelleri Maria Chiara, Cicchini Elena, Locatelli Chiara, Vitale Lorenza, Caracausi Maria, Piovesan Allison, Rocca Alessandro, Poletti Giulia, Seri Marco, Strippoli Pierluigi, Cocchi Guido

Abstract excerpt

A 'Down Syndrome critical region' (DSCR) sufficient to induce the most constant phenotypes of Down syndrome (DS) had been identified by studying partial (segmental) trisomy 21 (PT21) as an interval of 0.6-8.3 Mb within human chromosome 21 (Hsa21), although its existence was later questioned. We propose an innovative, systematic reanalysis of all described PT21 cases (from 1973 to 2015). In particular, we built an...

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Identifiers

PMID: 27106104
DOI: 10.1093/hmg/ddw116
PMCID: PMC5181629

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Source receipt: pubmed, retrieved 7 Sept 2026.

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