6533b86cfe1ef96bd12c8d74
RESEARCH PRODUCT
De novo t(12;17)(p13.3;q21.3) translocation with a breakpoint near the 5' end of the HOXB gene cluster in a patient with developmental delay and skeletal malformations.
Christiane BommerDanuta GaletzkaThomas HaafUlrich ZechnerAngelika DaserChristina KelbovaRuxandra FarcasPeter KüpferlingGundula ThielYing YueBärbel Grossmannsubject
GeneticsMaleChromosomes Human Pair 12Developmental DisabilitiesBreakpointGenes HomeoboxChromosomeChromosome MappingChromosomal translocationChromosome BreakageBiologyTranslocation GeneticMusculoskeletal AbnormalitiesPosition effectChild PreschoolGene clusterGeneticsHumansHuman genomeGeneGenetics (clinical)Chromosome 12Chromosomes Human Pair 17description
A boy with severe mental retardation, funnel chest, bell-shaped thorax, and hexadactyly of both feet was found to have a balanced de novo t(12;17)(p13.3;q21.3) translocation. FISH with BAC clones and long-range PCR products assessed in the human genome sequence localized the breakpoint on chromosome 17q21.3 to a 21-kb segment that lies <30 kb upstream of the HOXB gene cluster and immediately adjacent to the 3′ end of the TTLL6 gene. The breakpoint on chromosome 12 occurred within telomeric hexamer repeats and, therefore, is not likely to affect gene function directly. We propose that juxtaposition of the HOXB cluster to a repetitive DNA domain and/or separation from required cis-regulatory elements gave rise to a position effect.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2007-03-01 | European journal of human genetics : EJHG |