Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height

Hum Genet. 1993 Jul;91(6):551-62. doi: 10.1007/BF00205079.


Although sex chromosome aberrations are frequently associated with statural changes, the underlying factors have not been clarified. To define the factors leading to the statural changes, we took the following three steps: (1) determination of the mean adult height in nonmosaic Caucasian patients with sex chromosome aberrations reported in the literature (assessment of genetic height potential); (2) assessment of the validity of factors that could influence stature; and (3) correlation of the mean adult height with the effects of specific growth-related factors. The results indicate that the adult height in patients with sex chromosome aberrations may primarily be defined by the dosage effect of pseudoautosomal and Y-specific growth genes, together with the degree of growth disadvantage caused by alteration of the quantity of euchromatic or non-inactivated region.

MeSH terms

  • Adult
  • Androgens / deficiency
  • Body Height*
  • Bone and Bones / abnormalities
  • Dosage Compensation, Genetic
  • Estrogens / deficiency
  • Female
  • Heterochromatin / ultrastructure
  • Humans
  • Karyotyping
  • Male
  • Middle Aged
  • Sex Chromosome Aberrations / genetics*
  • Whites
  • X Chromosome
  • Y Chromosome


  • Androgens
  • Estrogens
  • Heterochromatin