A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene. |
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| Authors: | J A Terrett R Newbury-Ecob N M Smith Q Y Li C Garrett P Cox D Bonnet S Lyonnet A Munnich A J Buckler and J D Brook |
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| Institution: | Department of Genetics, University of Nottingham, Queen''s Medical Centre, United Kingdom. |
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| 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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