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Article

Polymorphisms of the 22q11.2 breakpoint region influence the frequency of de novo constitutional t(11;22)s in sperm.

Human molecular genetics - 1 Jul 2010

Tong Maoqing, Kato Takema, Yamada Kouji, Inagaki Hidehito, Kogo Hiroshi, Ohye Tamae, Tsutsumi Makiko, Wang Jieru, Emanuel Beverly S, Kurahashi Hiroki

Abstract excerpt

The constitutional t(11;22) is the most frequent recurrent non-Robertsonian translocation in humans, the breakpoints of which are located within palindromic AT-rich repeats on 11q23 and 22q11 (PATRR11 and PATRR22). Genetic variation of the PATRR11 was found to affect de novo t(11;22) translocation frequency in sperm derived from normal healthy males, suggesting the hypothesis that polymorphisms of the PATRR22...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20392709
DOI: 10.1093/hmg/ddq150
PMCID: PMC2883341

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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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