Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: a clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata

Hum Genet. 1996 May;97(5):564-7. doi: 10.1007/BF02281861.


This paper describes a 12-year-old Japanese boy with coarctation of the aorta, renal hypoplasia, Turner/Noonan surface anomalies, and a 46,XY karyotype. Although the patient might represent an exceptional case of Noonan syndrome, the combination of the somatic stigmata appears to be consistent with a mutation of the putative lymphogenic gene(s) for Turner somatic stigmata.

Publication types

  • Case Reports

MeSH terms

  • Aortic Coarctation / diagnosis
  • Aortic Coarctation / genetics*
  • Cell Line
  • Child
  • Female
  • Genetic Markers
  • Humans
  • Karyotyping
  • Kidney / abnormalities*
  • Lymphocytes / physiology
  • Male
  • Mutation
  • Noonan Syndrome / genetics*
  • Noonan Syndrome / pathology
  • Polymerase Chain Reaction
  • Turner Syndrome / genetics*
  • X Chromosome
  • Y Chromosome


  • Genetic Markers