X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3

Am J Med Genet. 1999 Jul 30;85(3):216-20.


A family is described in which X-linked mild to borderline mental retardation (MR) is associated with cleft lip/palate. Linkage analysis showed a maximum LOD score of Z=2.78 at straight theta=0.0 for the DXS441 locus with flanking markers DXS337 and DXS990, defining the region Xp11.3-q21.3 with a linkage interval of 25 cM.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Cleft Lip / complications*
  • Cleft Palate / complications*
  • DNA / genetics
  • Family Health
  • Female
  • Genetic Linkage
  • Humans
  • Intellectual Disability / complications
  • Intellectual Disability / genetics*
  • Lod Score
  • Male
  • Microsatellite Repeats
  • Pedigree
  • X Chromosome / genetics*


  • DNA