title: Fine mapping of X-linked clasped thumb and mental retardation (MASA syndrome) in Xq28.
abstract: The MASA syndrome is an X-linked disorder with mental retardation, spastic paraparesis, and adducted thumbs as the most characteristic features. We performed linkage analysis, using Xq28 markers, on a large MASA syndrome family. The maximum lodscore was 6.37 at 0 recombination for DXS52 and 5.99 at 0 recombination for DXS305. Crossovers were demonstrated between the disorder and DXS455. Clinical and linkage data from this family further support the hypothesis that the MASA syndrome and X-linked hydrocephalus are allelic disorders.
authors.affiliation: University of Michigan, Department of Pediatric Genetics, Ann Arbor.
authors.forename: E
authors.initials: E
authors.lastname: Legius
authors.forename: L
authors.initials: L
authors.lastname: Kaepernick
authors.forename: J V
authors.initials: JV
authors.lastname: Higgins
authors.forename: T W
authors.initials: TW
authors.lastname: Glover
mesh_terms: D002874:Chromosome Mapping; D015342:DNA Probes; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities*; D014960:X Chromosome
chemical_list: D015342:DNA Probes; D005819:Genetic Markers