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Article

Calibration of 6q subtelomere deletions to define genotype/phenotype correlations.

Clinical genetics - 1 May 2005

Eash D, Waggoner D, Chung J, Stevenson D, Martin C L

Abstract excerpt

Testing for subtelomere abnormalities in patients with idiopathic mental retardation has become a useful diagnostic tool. However, limited data exist regarding genotype/phenotype correlations for specific subtelomere imbalances. We have ascertained five patients with 6q subtelomere deletions either as a result of an isolated deletion or as a result of an unbalanced translocation, and developed a molecular ruler...

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Share to Chromosomes, Human, Pair 6
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15811006
DOI: 10.1111/j.1399-0004.2005.00424.x

Provenance

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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