title: Severe musculoskeletal phenotype associated with an unbalanced t(6;10) translocation: clarification of the locus for this phenotype on distal 6p.
abstract: Larsen syndrome is a congenital condition consisting of multiple large joint dislocations associated with a distinctive facial appearance and frequently other abnormalities. The syndrome is probably genetically heterogeneous, with both dominant and recessive inheritance reported. Previously two cases have been reported where a Larsen-like syndrome was associated with unbalanced chromosomal translocations resulting in partial trisomy 1q and monosomy distal 6p. We now report a child with an unbalanced translocation resulting in a distal 6p deletion and partial trisomy 10q, who has Larsen-like features and has also severe developmental delay. A G-banded preparation revealed a karyotype 46,XX,der(6),t(6:10)(p25;q25.2) and the breakpoint at 6p25 was confirmed by FISH using YAC probes (between 6p25 at D6s477/F13A1 and 6p24 at 6WI13606). Our case provides further evidence for a Larsen-like locus at distal 6p and reduces the potential critical region.
authors.affiliation: Northern Regional Genetics Service, Auckland Hospital, Auckland, New Zealand.
authors.forename: Paul A
authors.initials: PA
authors.lastname: James
authors.forename: Salim
authors.initials: S
authors.lastname: Aftimos
authors.forename: Paul
authors.initials: P
authors.lastname: Oei
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D004204:Joint Dislocations / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009140:Musculoskeletal Diseases / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy / Q000235:genetics