Is there an influence of X-chromosomal imprinting on the phenotype in Klinefelter syndrome? A clinical and molecular genetic study of 61 cases

Clin Genet. 2006 Jul;70(1):43-8. doi: 10.1111/j.1399-0004.2006.00635.x.

Abstract

Studies on Turner syndrome suggested the presence of X-chromosomal-imprinted genes involved in social and verbal cognition. Imprinted genes on autosomes were shown to affect growth. Could imprinting of such genes on the X chromosome also influence psychomotor development and growth in men with Klinefelter syndrome (KS), who have a supernumerary X? We recorded anthropometric and psychomotor development parameters for 61 males with KS (age range 2-56 years). In 54 cases, we were able to assess intelligence quotient (IQ) and found that impaired speech - and motor developmental problems were reported significantly more often in the paternal X - than in the maternal X group (P = 0.02). We found some significant (P < 0.05) increased body size parameters in the paternal X group, which concurs with data reporting a growth promoting influence of paternally derived genes. Our results suggest X-chromosomal imprinting occurs in males with KS.

MeSH terms

  • Adolescent
  • Adult
  • Base Sequence
  • Child
  • Child, Preschool
  • Chromosomes, Human, X / genetics*
  • DNA / genetics
  • Female
  • Genomic Imprinting*
  • Humans
  • Intelligence / genetics
  • Klinefelter Syndrome / genetics*
  • Klinefelter Syndrome / pathology
  • Klinefelter Syndrome / psychology
  • Male
  • Middle Aged
  • Molecular Biology
  • Phenotype
  • Receptors, Androgen / genetics
  • Trinucleotide Repeats

Substances

  • Receptors, Androgen
  • DNA