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Partial deletion of the X chromosome in gonadal dysgenesis 46,X,del(X)(p22) identified by BUdR treatment

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Summary

In this report we describe a deletion of the short arm of the X chromosome in a 16-year-old female with gonadal dysgenesis.

The breakpoint was localized by BUdR treatment and acridine orange staining in region 2, band 2.

Of the examined cells, 3% showed an early replication of the deleted X chromosome.

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Authors and Affiliations

  1. Institute of General Biology II, Faculty of Medicine, University of Rome, Policlinico Umberto I, Rome, Italy

    P. Petrinelli, A. Antonelli, P. Gabellini, F. Gigliani, L. Marcucci & B. Nicoletti

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  1. P. Petrinelli
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  2. A. Antonelli
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  3. P. Gabellini
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  4. F. Gigliani
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  5. L. Marcucci
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  6. B. Nicoletti
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Petrinelli, P., Antonelli, A., Gabellini, P. et al. Partial deletion of the X chromosome in gonadal dysgenesis 46,X,del(X)(p22) identified by BUdR treatment. Hum Genet 45, 351–354 (1978). https://doi.org/10.1007/BF00278734

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  • DOI: https://doi.org/10.1007/BF00278734

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