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MRX8: An X‐linked mental retardation condition with linkage to Xq21

1992; Wiley; Volume: 43; Issue: 1-2 Linguagem: Inglês

10.1002/ajmg.1320430170

1096-8628

Charles E. Schwartz, Melanie May, Tim H.‐M. Huang, David H. Ledbetter, Gail S. Anderson, David F. Barker, Hebert A. Lubs, Fernando Arena, Roger E. Stevenson,

Genomics and Rare Diseases

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 (θmax = 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.