A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene.
case_report · Level V
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- Record sourced from PubMed, PMID 8940280.
- Also identified by PMC identifier 1914871.
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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.
Medical subject headings
- Arm
- Chromosome Mapping
- Chromosomes, Human, Pair 12
- Heart Defects, Congenital
- Translocation, Genetic