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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Metacarpophalangeal pattern profile analysis in Brachmann-de Lange syndrome.

We analyzed the metacarpophalangeal pattern profile ( MCPP) of 19 individuals with Brachmann-de Lange syndrome (BDLS) and calculated a mean syndrome profile. Fourteen of 19 individuals with BDLS had significant positive correlations which indicated clinical homogeneity. Discriminant analysis of individuals with BDLS compared with a sample of normal individuals produced a correct classification rate of 100% based on a function of 2 MCPP variables that may provide a useful tool for assisting in the diagnosis of BDLS. An average pattern variability index calculated for the BDLS patients was 1.9 indicating an abnormal hand pattern in this syndrome.[1]


  1. Metacarpophalangeal pattern profile analysis in Brachmann-de Lange syndrome. Butler, M.G., Dahir, G.A., Gale, D.D., Meaney, F.J. Am. J. Med. Genet. (1993) [Pubmed]
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