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Article

Pure distal trisomy 2q: a rare chromosomal abnormality with recognizable phenotype.

American journal of medical genetics. Part A - 1 Nov 2009

Elbracht Miriam, Roos Andreas, Schönherr Nadine, Busse Sabine, Damen Reinhild, Zerres Klaus, Rudnik-Schöneborn Sabine, Schüler Herdit Monika

Abstract excerpt

We present clinical and molecular cytogenetic results of two unrelated patients with isolated distal trisomy of 2q33-qter and 2q35-q37.3 and a remarkable similar facial appearance. Common craniofacial features included a high hairline, broad nasal bridge, prominent nasal tip, thin upper lip vermillion, and large ears. Contrary to patients with duplications proximal to 2q33, the children with pure trisomy distal...

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PMID: 19876899
DOI: 10.1002/ajmg.a.33086

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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