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Article

3q29 interstitial microduplication: a new syndrome in a three-generation family.

American journal of medical genetics. Part A - 1 Mar 2008

Lisi Emily C, Hamosh Ada, Doheny Kimberly F, Squibb Elizabeth, Jackson Barbara, Galczynski Rebecca, Thomas George H, Batista Denise A S

Abstract excerpt

Microdeletion and microduplication genetic syndromes are known to be a significant cause of developmental delay and dysmorphology. Utilizing high-resolution chromosome analysis, array CGH and SNP technologies we identified a novel genomic syndrome comprising of an interstitial duplication of approximately 1.61 Mb at the distal end of chromosome 3 band q29. The imbalance was present in five individuals in a three...

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Identifiers

PMID: 18241066
DOI: 10.1002/ajmg.a.32190

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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