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X Long-arm Deletions. A Review of Non-mosaic Cases Studied with Banding Techniques

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Journal Hum Genet
Specialty Genetics
Date 1984 Jan 1
PMID 6745919
Citations 11
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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.

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