title: Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22.
abstract: Autosomal recessive Robinow syndrome is a form of mesomelic dwarfism with multiple rib and vertebral anomalies. Using autozygosity mapping we have identified a genetic locus (RBNW1) for this syndrome at chromosome 9q22 in seven consanguineous families from Oman. Our results indicate that the gene lies within a 4 cM region between markers D9S1836 and D9S1803 (maximum multipoint LOD score 12.3). In addition, we have analysed two non-Omani families with autosomal recessive Robinow and found no genetic heterogeneity.
authors.affiliation: Medical Genetics Unit, St. George's Hospital Medical School, London, UK.
authors.forename: A R
authors.initials: AR
authors.lastname: Afzal
authors.forename: A
authors.initials: A
authors.lastname: Rajab
authors.forename: C
authors.initials: C
authors.lastname: Fenske
authors.forename: A
authors.initials: A
authors.lastname: Crosby
authors.forename: N
authors.initials: N
authors.lastname: Lahiri
authors.forename: E
authors.initials: E
authors.lastname: Ternes-Pereira
authors.forename: V A
authors.initials: VA
authors.lastname: Murday
authors.forename: R
authors.initials: R
authors.lastname: Houlston
authors.forename: M A
authors.initials: MA
authors.lastname: Patton
authors.forename: S
authors.initials: S
authors.lastname: Jeffery
mesh_terms: D001842:Bone and Bones / Q000002:abnormalities; D001938:Brazil; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D003241:Consanguinity; D004392:Dwarfism / Q000235:genetics*; D005808:Genes, Recessive; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D018895:Microsatellite Repeats; D009850:Oman; D006113:United Kingdom