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Robertsonian Translocations: Mechanisms of Formation, Aneuploidy, and Uniparental Disomy and Diagnostic Considerations

1 Sept 2002

Abstract excerpt

Robertsonian translocations (ROBs) are rearrangements of the acrocentric chromosomes 13-15 and 21-22. Cytologically, ROBs between homologous chromosomes cannot be distinguished from isochromosomes that originate through duplication of a single homologue. Both types of rearrangements can be involved in aneuploidy. A conceptus with a trisomy or a monosomy can be rescued, and in a proportion of cases, a uniparental...

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PMID: 12490055
DOI: 10.1089/109065702761403315

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

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