, Volume 67, Issue 1, pp 1-5

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

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.

Supported by grants to E.N. from the P. Carl Petersen's Foundation (B995) and the Danish Medical Research Council (512-4276).