The localization of a gene causing X-linked cleft palate and ankyloglossia (CPX) in an Icelandic kindred is between DXS326 and DXYS1X

Genomics. 1993 Sep;17(3):549-55. doi: 10.1006/geno.1993.1370.


The locus responsible for X-linked, nonsyndromic cleft palate and/or ankyloglossia (CPX) has previously been mapped to the proximal long arm of the human X chromosome between Xq21.31 and q21.33 in an Icelandic kindred. We have extended these studies by analyzing an additional 14 informative markers in the family as well as including several newly investigated family members. Recombination analysis indicates that the CPX locus is more proximal than previously thought, within the interval Xq21.1-q21.31. Two recombinants place DXYS1X as the distal flanking marker, while one recombinant defines DXS326 as the proximal flanking marker, an interval of less than 5 cM. Each of the flanking markers recombines with the CPX locus, giving 2-point lod scores of Zmax = 4.16 at theta = 0.08 (DXS326) and Zmax = 5.80 at theta = 0.06 (DXYS1X).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Mapping
  • Cleft Palate / genetics*
  • Female
  • Genetic Linkage*
  • Genetic Markers
  • Haplotypes
  • Humans
  • Iceland
  • Lod Score
  • Male
  • Pedigree
  • Recombination, Genetic
  • Tongue / abnormalities*
  • Trisomy
  • X Chromosome*


  • Genetic Markers