Human Genetics

, Volume 67, Issue 1, pp 1–5

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


  • Lillian Skibsted
    • The Department of Obstetrics and GynecologyKAS
  • H. Westh
    • The Department of Obstetrics and GynecologyKAS
  • E. Niebuhr
    • Institute of Human GeneticsUniversity of Copenhagen
Review Articles

DOI: 10.1007/BF00270550

Cite this article as:
Skibsted, L., Westh, H. & Niebuhr, E. Hum Genet (1984) 67: 1. doi:10.1007/BF00270550


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.

Copyright information

© Springer-Verlag 1984