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. 1997 Feb;60(2):426-32.

A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter

P A Krakowiak  1 , J R O'Quinn, J F Bohnsack, W S Watkins, J C Carey, L B Jorde, M Bamshad
Affiliations

A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter

P A Krakowiak et al. Am J Hum Genet. 1997 Feb.

Abstract

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.

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