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CLINICAL FINDINGS IN PATIENTS WITH NUMERICAL ABNORMALITIES OF THE X CHROMOSOME: A THREE‐YEAR SURVEY OF CONSECUTIVE ADMISSIONS TO A GENERAL HOSPITAL
Author(s) -
Garson O. M.,
Robson M. K.,
Weste S. M.,
Baikie A. G.
Publication year - 1980
Publication title -
medical journal of australia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 131
eISSN - 1326-5377
pISSN - 0025-729X
DOI - 10.5694/j.1326-5377.1980.tb131810.x
Subject(s) - abnormality , klinefelter syndrome , chromosomal abnormality , medicine , pediatrics , population , chromosome abnormality , x chromosome , chromosome , gynecology , karyotype , genetics , biology , psychiatry , environmental health , gene
A buccal smear survey 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.