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Article

Down syndrome with partial duplication and del (21) syndrome: study protocol and call for collaboration. Study I: Clinical assessment.

Clinical genetics - 1 Jan 1996

Barnicoat A J, Bonneau J L, Boyd E, Docherty Z, Fennell S J, Huret J L, King M, Maltby E L, McManus S, Pilz D T, Shafei-Benaissa E, Super M, Tolmie J

Abstract excerpt

We report on the clinical and cytogenetic assessment of five cases of Down syndrome phenotype with either a partial duplication of chromosome 21 or a normal karyotype, and we quote a case of del (21q) syndrome. Down syndromes with a partial duplication of chromosome 21 (as well as cases of del (21q), which are partly the phenotypic countertype of trisomy 21) are of paramount importance in the understanding of...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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PMID: 8721567
DOI: 10.1111/j.1399-0004.1996.tb04319.x

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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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