The 47,XXY karyotype and unrelated malformative patterns: an unusual association

Helv Paediatr Acta. 1987 Jun;42(5-6):457-61.


47,XXY chromosome complement is relatively frequent (1/750-1000 male newborns) but has so far not been reported in association with malformative syndromes. Three cases of 47,XXY karyotype associated with an unrelated malformative pattern, the Silver-Russell syndrome in two cases and Noonan syndrome in one case are reported. The possibility of a phenotypic alteration of patients with the XXY karyotype by these malformative syndromes is considered.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Child
  • Child Development
  • Humans
  • Intellectual Disability / genetics
  • Karyotyping
  • Male
  • Noonan Syndrome / genetics
  • Sex Chromosome Aberrations / genetics*
  • X Chromosome*