| Literature DB >> 8723077 |
F Gurrieri1, P Prinos, D Tackels, M W Kilpatrick, J Allanson, M Genuardi, A Vuckov, L Nanni, E Sangiorgi, G Garofalo, M E Nunes, G Neri, C Schwartz, P Tsipouras.
Abstract
The split hand-split foot (SHSF) malformation affects the central rays of the upper and lower limbs. It presents either as an isolated defect or in association with other skeletal or non-skeletal abnormalities. An autosomal SHSF locus (SHFM1) was previously mapped to 7q22.1. We report the mapping of a second autosomal SHSF locus to 10q24-->25. A panel of families was tested with 17 marker loci mapped to the 10q24-->25 region. Maximum lod scores of 3.73, 4.33 and 4.33 at a recombination fraction of zero were obtained for the loci D10S198, PAX2 and D10S1239, respectively. An 19 cM critical region could be defined by haplotype analysis and several genes with a potential role in limb morphogenesis are located in this region. Heterogeneity testing indicates the existence of at least one additional autosomal SHSF locus.Entities:
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Year: 1996 PMID： 8723077 DOI： 10.1002/(SICI)1096-8628(19960424)62:4<427::AID-AJMG16>3.0.CO;2-Q
Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299