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説明
A structurally abnormal X chromosome is often present in female individuals with some or all features of Turner’s syndrome. In most cases there is accompanying mosaicism for a 45,X or normal cell line.’ However, a structural abnormality of the X chromosome is rare in male subjects. We describe a boy with intrachromosomal triplication of the X chromosome. To our knowledge our case represents the first report of X chromosome triplication without mosaicism. CASE REPORT
収録刊行物
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- The Journal of Urology
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The Journal of Urology 1490-1491, 1998-10-01
Ovid Technologies (Wolters Kluwer Health)