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- W2012807745 abstract "We present a patient with heterotaxy and a de novo, apparently balanced reciprocal translocation with breakpoints at 6q21 and 20p13. Another patient with heterotaxy was previously reported with a de novo balanced translocation involving chromosome band 6q21. The breakpoints in both patients on 6q21 were found to be located in the same chromosomal region spanning maximally 2 Mb. We speculate that the two breakpoints lead to the disruption of the function of a single gene, either directly or through long distance effects. Alternatively, the present observation suggests additional heterogeneity in heterotaxy in humans. © 2001 Wiley-Liss, Inc." @default.
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- W2012807745 date "2001-01-01" @default.
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- W2012807745 title "Recurrent involvement of chromosomal region 6q21 in heterotaxy" @default.
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- W2012807745 doi "https://doi.org/10.1002/ajmg.1499" @default.
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