Article
A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene.
American journal of human genetics - 1 Dec 1996
Terrett J A, Newbury-Ecob R, Smith N M, Li Q Y, Garrett C, Cox P, Bonnet D, Lyonnet S, Munnich A, Buckler A J, Brook J D
Abstract excerpt
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...
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