Deletion of the short arm of the X chromosome: a hereditary form of Turner syndrome

Eur J Pediatr. 1992 Dec;151(12):893-4. doi: 10.1007/BF01954124.


In the mothers of two girls with Turner syndrome due to a deletion of the short arm of an X chromosome, the same chromosomal anomaly was detected. Both mothers and daughters had short stature but normal pubertal development. Short parents and normal pubertal development do not exclude Turner syndrome in a girl with small stature.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosome Deletion*
  • Female
  • Humans
  • Turner Syndrome / diagnosis
  • Turner Syndrome / genetics*
  • X Chromosome*