A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene

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; J D Brook

A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene

Am J Hum Genet. 1996 Dec;59(6):1337-41.

Authors

J A Terrett¹, R Newbury-Ecob, N M Smith, Q Y Li, C Garrett, P Cox, D Bonnet, S Lyonnet, A Munnich, A J Buckler, J D Brook

Affiliation

¹ Department of Genetics, University of Nottingham, Queen's Medical Centre, United Kingdom.

PMID: 8940280
PMCID: PMC1914871

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Arm / abnormalities*
Chromosome Mapping*
Chromosomes, Human, Pair 12 / genetics*
Female
Heart Defects, Congenital / genetics*
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Phenotype
Syndrome
Translocation, Genetic / genetics*