A study of females with deletions of the short arm of the X chromosome

Hum Genet. 1998 May;102(5):507-16. doi: 10.1007/s004390050733.


We have undertaken a clinical and molecular study of 25 females with deletions of the short arm of the X chromosome. We have determined the deletion breakpoints, the parental origin and the activation status of the deleted X chromosomes. Genotype-phenotype correlations suggest that the presence of a single copy of the DFFRX gene, previously postulated as a gene involved in the ovarian failure seen in Turner syndrome, may be compatible with normal ovarian function, and that there may be a gene for Turner-like features located in distal Xp22.3.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Cardiovascular Abnormalities
  • Child
  • Child, Preschool
  • Chromosome Breakage
  • Chromosome Deletion*
  • Dosage Compensation, Genetic
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Kidney Diseases / genetics
  • Middle Aged
  • Musculoskeletal Abnormalities
  • Ovary / physiology
  • Parents
  • Turner Syndrome / genetics
  • X Chromosome*