Review Articles

Human Genetics

, Volume 67, Issue 1, pp 1-5

First online:

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

  • Lillian SkibstedAffiliated withThe Department of Obstetrics and Gynecology, KAS
  • , H. WesthAffiliated withThe Department of Obstetrics and Gynecology, KAS
  • , E. NiebuhrAffiliated withInstitute of Human Genetics, University of Copenhagen

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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.