A buccal smear study of 21,634 consecutive patients admitted to a general hospital was carried out over a period of three years. Twenty-eight patients were found to have an X-chromosome abnormality giving an over-all frequency of 1.3 per 1000. There were 19 males with Klinefelter's syndrome and nine females with triple-X syndrome. The sex chromosome abnormality had been diagnosed in only one patient before this study began, but examination after admission to hospital showed that the presence of small testes was an invariable finding in the postpubertal males with Klinefelter's syndrome. No other feature was found which could be considered diagnostic of an X-chromosome abnormality. The frequency of Klinefelter's and triple-X syndromes in this hospital population did not differ from the recorded frequency of these syndromes at birth.
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| http://dx.doi.org/10.5694/j.1326-5377.1980.tb131810.x | DOI Listing |
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