title: X long-arm deletions. A review of non-mosaic cases studied with banding techniques.
abstract: 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.
mesh_terms: D000293:Adolescent; D000328:Adult; D002871:Chromosome Banding; D002872:Chromosome Deletion; D005260:Female; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D010050:Ovarian Function Tests; D010053:Ovary / Q000503:physiopathology; D014424:Turner Syndrome / Q000235:genetics* / Q000503:physiopathology; D014960:X Chromosome / Q000648:ultrastructure*