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Article

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities.

Journal of medical genetics - 1 Jun 2006

Ravnan J B, Tepperberg J H, Papenhausen P, Lamb A N, Hedrick J, Eash D, Ledbetter D H, Martin C L

Abstract excerpt

BACKGROUND: Subtelomere fluorescence in situ hybridisation (FISH) analysis has increasingly been used as an adjunct to routine cytogenetic testing in order to detect small rearrangements. Previous reports have estimated an overall abnormality rate of 6%, with a range of 2-29% because of different...

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Identifiers

PMID: 16199540
DOI: 10.1136/jmg.2005.036350
PMCID: PMC2564531

Genes

BCR
PML

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16199540-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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