X long-arm deletions. A review of non-mosaic cases studied with banding techniques
- Cite this article as:
- Skibsted, L., Westh, H. & Niebuhr, E. Hum Genet (1984) 67: 1. doi:10.1007/BF00270550
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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.