MRX8: an X-linked mental retardation condition with linkage to Xq21

Am J Med Genet. 1992;43(1-2):467-74. doi: 10.1002/ajmg.1320430170.

Abstract

A family in which 6 males have X-linked mental retardation has been studied with polymorphic DNA probes. The males differ from unaffected males only in impaired intellect and in smaller head size. The gene that causes mental retardation in the family appears to be located in band Xq21 on the basis of linkage with 3 markers: DXS250, DXS345 and DXS3 (theta max = 0.00; Zmax = 1.6). A multipoint lod score of 2.36 was obtain with no recombination relative to DXS326 in Xq21. This family is considered to have nonspecific X-linked mental retardation and has been given the designation MRX8.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Aged
  • Chromosome Mapping
  • DNA Probes
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Intellectual Disability / complications
  • Intellectual Disability / genetics*
  • Male
  • Microcephaly / complications
  • Microcephaly / genetics
  • Middle Aged
  • Pedigree
  • Phenotype
  • Skull / abnormalities
  • X Chromosome*

Substances

  • DNA Probes
  • Genetic Markers