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suck abstract from ncbi


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pmid9012416      Am+J+Hum+Genet 1997 ; 60 (2): 426-32
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  • A variant of Freeman-Sheldon syndrome maps to 11p15 5-pter #MMPMID9012416
  • Krakowiak PA; O'Quinn JR; Bohnsack JF; Watkins WS; Carey JC; Jorde LB; Bamshad M
  • Am J Hum Genet 1997[Feb]; 60 (2): 426-32 PMID9012416show ga
  • Distal arthrogryposis type 1 (DA1) and Freeman-Sheldon syndrome (FSS) are the two most common known causes of inherited multiple congenital contractures. We recently have characterized a new disorder (DA2B) with a phenotype intermediate between DA1 and FSS. We report the mapping of a gene that causes DA2B to chromosome 11p15.5-pter. Linkage analysis in a single kindred generated a positive LOD score of 5.31 at theta = 0 with the marker D11S922, and recombinants localize the gene to an approximately 3.5-6.5-cM region between the marker TH and the telomere. Analysis of additional families improves the LOD score to 6.45 at theta = 0 and suggests linkage homogeneity for DA2B.
  • |*Chromosome Mapping[MESH]
  • |*Chromosomes, Human, Pair 11[MESH]
  • |Abnormalities, Multiple/*genetics[MESH]
  • |Arthrogryposis/*genetics[MESH]
  • |Female[MESH]
  • |Haplotypes[MESH]
  • |Humans[MESH]
  • |Lod Score[MESH]
  • |Male[MESH]
  • |Pedigree[MESH]
  • |Recombination, Genetic[MESH]


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