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Article

Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant.

European journal of medical genetics - 1 Jan 2000

Bonaglia Maria Clara, Giorda Roberto, Beri Silvana, Peters Gregory B, Kirk Edwin P, Hung Dorothy, Ciccone Roberto, Gottardi Giulietta, Zuffardi Orsetta

Abstract excerpt

We report the second instance of a complex unbalanced rearrangement consisting of distal trisomy 6p and 20q due to the concurrent transposition of distal 6p and 20q to the 22q telomere, previously described as a benign familial chromosomal variant. In the previous case, the nonpathogenicity of the rearrangement was based on the absence of genotypic differences between the affected proband and his normal father,...

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Identifiers

PMID: 18226592
DOI: 10.1016/j.ejmg.2007.11.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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