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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.
AuthorsA R Afzal, A Rajab, C Fenske, A Crosby, N Lahiri, E Ternes-Pereira, V A Murday, R Houlston, M A Patton, S Jeffery
JournalHuman genetics (Hum Genet) Vol. 106 Issue 3 Pg. 351-4 (Mar 2000) ISSN: 0340-6717 [Print] Germany
PMID10798366 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Topics
  • Bone and Bones (abnormalities)
  • Brazil
  • Chromosome Mapping
  • Chromosomes, Human, Pair 9 (genetics)
  • Consanguinity
  • Dwarfism (genetics)
  • Genes, Recessive
  • Genetic Linkage
  • Haplotypes
  • Humans
  • Lod Score
  • Microsatellite Repeats
  • Oman
  • United Kingdom

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