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Article

Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture.

Journal of medical genetics - 1 May 2006

Ciccone R, Mattina T, Giorda R, Bonaglia M C, Rocchi M, Pramparo T, Zuffardi O

Abstract excerpt

Molecular definition at the BAC level of an 8p dicentric chromosome and an 8p deleted chromosome is reported in a patient with two different cell lines. The dicentric, which differed from that generating the recurrent inv dup del(8p) for the location of its break point, originated during the paternal meiosis on the background of the classical 8p23.1 inversion polymorphism. The breakage of this dicentric gave rise...

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Identifiers

PMID: 16648372
DOI: 10.1136/jmg.2005.037671
PMCID: PMC2564524

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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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