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Article

Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis.

Clinical genetics - 1 Aug 1999

Heilstedt H A, Shapira S K, Gregg A R, Shaffer L G

Abstract excerpt

Chromosome 1p duplications are rare. There have been only 11 reported cases of isolated 1p duplication, all of which were proximal, interstitial duplications. We present a patient with a terminal duplication of 1p (1p36.3). To our knowledge, this is the first such reported case. Our patient presented with metopic synostosis, rectal stenosis, atrial septal defect, and mildly delayed gross motor development....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 10517248
DOI: 10.1034/j.1399-0004.1999.560205.x

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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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