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