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Article

Chromosome 18 replaced by two ring chromosomes of chromosome 18 origin.

Human genetics - 1 Apr 2003

Miller K, Pabst B, Ritter H, Nürnberg P, Siebert R, Schmidtke J, Arslan-Kirchner M

Abstract excerpt

We here describe the first example of the replacement of an autosome by two ring chromosomes originating from the missing chromosome, presented in a patient with a single chromosome 18 and two additional ring chromosomes. Detailed fluorescence in situ hybridization (FISH) analysis revealed the chromosome 18 origin of both ring chromosomes and characterized the small and the large ring chromosome as derivatives of...

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Identifiers

PMID: 12574939
DOI: 10.1007/s00439-002-0885-1

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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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