Fragile X-linked mental retardation: the Martin-Bell syndrome

J Ment Defic Res. 1981 Dec:25 Pt 4:253-6. doi: 10.1111/j.1365-2788.1981.tb00115.x.

Abstract

Seven members of the original family of sex-linked mental retardation reported by Martin and Bell in 1943 have been re-examined and five of them proved to carry a fragile X chromosome. Some also display the typical facial appearance associated with this anomaly, and some have macro-orchidism. It is proposed that the condition should be designated "The Martin-Bell syndrome."

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Chromosome Fragility*
  • Facial Expression
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Middle Aged
  • Pedigree
  • Sex Chromosome Aberrations / genetics*
  • Syndrome
  • Testis / abnormalities
  • X Chromosome