Human Genetics

, Volume 67, Issue 1, pp 1–5 | Cite as

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

  • Lillian Skibsted
  • H. Westh
  • E. Niebuhr
Review Articles

Summary

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.

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Copyright information

© Springer-Verlag 1984

Authors and Affiliations

  • Lillian Skibsted
    • 1
  • H. Westh
    • 1
  • E. Niebuhr
    • 2
  1. 1.The Department of Obstetrics and GynecologyKASGlostrupDenmark
  2. 2.Institute of Human GeneticsUniversity of CopenhagenCopenhagenDenmark

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