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Short arm deletion of an X chromosome, 46,XXp-

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Summary

A 27-year-old patient of short stature with primary amenorrhea and other slight Turner signs showed a 46,XX,del(X) (qter→p11:) karyotype, identified by a combination of fluorescence and giemsa-banding technique. By BUdR incorporation the deleted X chromosome was shown to be the late replicating one.

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Kaiser, P., Zabel, B., Hansen, S. et al. Short arm deletion of an X chromosome, 46,XXp-. Hum Genet 32, 89–100 (1976). https://doi.org/10.1007/BF00569982

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