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Article

Phenotypic spectrum of interstitial 7p duplication in mosaic and non-mosaic forms.

American journal of medical genetics - 15 May 2002

Cox Helen, Stewart Helen, Hall Lucy, Donnai Dian

Abstract excerpt

The phenotypes of a mother and child with a duplication of 7p15-7p22 are described. The mother is mosaic for the cytogenetic abnormality, whereas all cells are affected in her son. Fewer than 5 patients with interstitial 7p duplications are described in the world literature whereas over 30 phenotypic descriptions of individuals with terminal 7p duplication can be found. Authors have suggested that the associated...

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Share to Chromosome Aberrations
Share to Chromosomes, Human, Pair 7
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11992485
DOI: 10.1002/ajmg.10368

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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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