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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1996 Dec;59(6):1337–1341.

A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene.

J A Terrett 1, R Newbury-Ecob 1, N M Smith 1, Q Y Li 1, C Garrett 1, P Cox 1, D Bonnet 1, S Lyonnet 1, A Munnich 1, A J Buckler 1, J D Brook 1
PMCID: PMC1914871  PMID: 8940280

Abstract

A gene for Holt-Oram syndrome (HOS) has been previously mapped to chromosome 12q2 and designated HOS1. We have identified a HOS patient with a de novo chromosomal rearrangement involving 12q. Detailed cytogenetic analysis of this case reveals three breaks on 12q, and two of these are within the HOS1 interval. By using a combination of chromosome painting and FISH with YACs and cosmids, it has been possible to map these breakpoints within the critical HOS1 interval and thus provide a focus for HOS gene-identification efforts.

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Selected References

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