A second autosomal split hand/split foot locus maps to chromosome 10q24-q25 |
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| Authors: | Nunes, Mark E. Schutt, Gregory Kapur, Raj P. Luthardt, Frederick Kukolich, Mary Byers, Peter Evans, James P. |
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| Affiliation: | Division of Congenital Defects, Department of Pediatrics and Division of Medical Genetics, Departments of Medicine Seattle, WA 98195 1Department of Pathology, University of Washington Seattle, WA 98195 2Laboratory of Pathology of Seattle Seattle, WA 98104 3Genetic Screening and Counseling Service Denton Texas 4Department of Medicine, University of North Carolina, Chapel Hill and the Carolina Permanante Medical Group Durham, NC, USA |
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| Abstract: | ![]()
Ectrodactyly (split hand/split foot malformation, SHSF) is ahuman limb malformation characterized by absent central digitalrays, deep median cleft, and syndactyly of remaining digits.The disorder is genetically heterogeneous, with at least twoloci thus far determined: an autosomal locus at 7q21 designatedSHFM1 and an X-linked locus at Xq26 designated SHFM2. Cytogeneticanalysis of sporadic SHSF patients and linkage studies in extendedpedigrees both suggest more than one autosomal locus exists.We report a novel SHSF locus suggested by a stillborn infantwith ectrodactyly and other malformations who inherited an unbalancedtranslocation resulting in monosomy 4p15.14pter and trisomyfor 10q25.2-qter. To investigate 10q25 as a possible split hand/splitfoot locus, microsatellite markers spanning 52 cM of 10q wereutilized for linkage analysis of a large autosomal dominantSHSF pedigree in which the region encompassing SHFM1 previouslywas excluded as containing the causative mutation. The markerD10S583 was fully informative in the family, giving a maximumLOD score of 4.21 at recombination |
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