title: 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.
abstract: 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.
authors.affiliation: Institute for Human Genetics, Johannes Gutenberg University Mainz, Mainz, Germany.
authors.forename: Ying
authors.initials: Y
authors.lastname: Yue
authors.forename: Ruxandra
authors.initials: R
authors.lastname: Farcas
authors.forename: Gundula
authors.initials: G
authors.lastname: Thiel
authors.forename: Christiane
authors.initials: C
authors.lastname: Bommer
authors.forename: Bärbel
authors.initials: B
authors.lastname: Grossmann
authors.forename: Danuta
authors.initials: D
authors.lastname: Galetzka
authors.forename: Christina
authors.initials: C
authors.lastname: Kelbova
authors.forename: Peter
authors.initials: P
authors.lastname: Küpferling
authors.forename: Angelika
authors.initials: A
authors.lastname: Daser
authors.forename: Ulrich
authors.initials: U
authors.lastname: Zechner
authors.forename: Thomas
authors.initials: T
authors.lastname: Haaf
mesh_terms: D002675:Child, Preschool; D019457:Chromosome Breakage; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D005801:Genes, Homeobox / Q000235:genetics*; D006801:Humans; D008297:Male; D009139:Musculoskeletal Abnormalities / Q000235:genetics*; D014178:Translocation, Genetic