Gene localization in a family with X-linked syndromal mental retardation (Prieto syndrome).
A mapping study was performed on a 3-generation Spanish family with X-linked syndromal mental retardation. Affected males have a typical facial appearance, ear malformations, abnormal growth of teeth, clinodactyly, dimpled skin at the lower back, and patellar luxation. In pneumoencephalography a marked subcortical cerebral atrophy was evident. In the linkage studies with polymorphic DNA markers, no recombination was found between the disease locus and the loci OTC and DXS148, both assigned to Xp21.1. One or more recombinants were observed between the disease locus and loci from the distal part of Xp and the pericentromeric region. Close linkage to loci of Xq has also been excluded. The analysis of multiple informative meioses suggests that the disease locus maps between DXS255 (Xp11.22) and DXS84 (Xp21.1) on Xp.
Watty
A
A
Institut für Humangenetik, Bonn, Germany.
Prieto
F
F
Beneyto
M
M
Neugebauer
M
M
Gal
A
A
D000015:Abnormalities, Multiple / Q000235:genetics*; D002874:Chromosome Mapping; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D013577:Syndrome; D014960:X Chromosome
D005819:Genetic Markers