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Article

Duplication of chromosome region 4q28.3-qter in monozygotic twins with discordant phenotypes.

American journal of medical genetics - 11 Sept 2000

Celle L, Lee L, Rintoul N, Savani R C, Long W, Mennuti M T, Krantz I D

Abstract excerpt

We describe monozygotic twins with partially discordant phenotypes who were found to have a duplication of chromosome region 4q28.3-qter. The duplicated region of chromosome 4 resulted from an unbalanced segregation of a balanced maternal (4;22)(q28.3;p13) translocation. Duplication of the long arm of chromosome 4 has been described in >60 patients; however, it usually results from the unbalanced segregation of a...

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Source

Identifiers

PMID: 10982969
DOI: 10.1002/1096-8628(20000911)94:2<125::aid-ajmg5>3.0.co;2-f

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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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