title: A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene.
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.
authors.affiliation: Department of Genetics, University of Nottingham, Queen's Medical Centre, United Kingdom.
authors.forename: J A
authors.initials: JA
authors.lastname: Terrett
authors.forename: R
authors.initials: R
authors.lastname: Newbury-Ecob
authors.forename: N M
authors.initials: NM
authors.lastname: Smith
authors.forename: Q Y
authors.initials: QY
authors.lastname: Li
authors.forename: C
authors.initials: C
authors.lastname: Garrett
authors.forename: P
authors.initials: P
authors.lastname: Cox
authors.forename: D
authors.initials: D
authors.lastname: Bonnet
authors.forename: S
authors.initials: S
authors.lastname: Lyonnet
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: A J
authors.initials: AJ
authors.lastname: Buckler
authors.forename: J D
authors.initials: JD
authors.lastname: Brook
mesh_terms: D001132:Arm / Q000002:abnormalities*; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D010641:Phenotype; D013577:Syndrome; D014178:Translocation, Genetic / Q000235:genetics*