X long-arm deletions. A review of non-mosaic cases studied with banding techniques

Hum Genet. 1984;67(1):1-5. doi: 10.1007/BF00270550.

Abstract

A woman with secondary amenorrhoea and an X long-arm deletion (pter----q21:) is described and compared with 30 adult non-mosaic, banded cases. Approximately 50% of the patients had gonadal dysgenesis associated with a higher frequency of short stature and "Turner stigmata" than in women with indication of ovarian activity. It is suggested that preservation of bands Xq26----28 may be decisive for normal ovarian function.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Chromosome Banding
  • Chromosome Deletion*
  • Female
  • Humans
  • Karyotyping
  • Mosaicism
  • Ovarian Function Tests
  • Ovary / physiopathology
  • Turner Syndrome / genetics*
  • Turner Syndrome / physiopathology
  • X Chromosome / ultrastructure*