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Clinical Notes
May 25, 1964

Phenotypic Male With Mosaic Sex Chromosomes

Author Affiliations

Birmingham, Ala

Drs. W. H. Finley and S. C. Finley are assistant professors in the Department of Pediatrics at the Medical College of Alabama and former NIH trainees at the Institute for Medical Genetics at the University of Uppsala, Sweden. Dr. Pittman is an assistant professor in the Department of Medicine at the Medical College of Alabama and clinical investigator at the Veterans Administration.

JAMA. 1964;188(8):758-760. doi:10.1001/jama.1964.03060340056018
Abstract

SEVERAL DIFFERENT KARYOTYPES, some with mosaicism, have now been demonstrated in cells from patients with the disorder of male sex differentiation known as Klinefelter's syndrome. The XXY sex chromosome pattern was the first aberration described in Klinefelter's syndrome1 and has been the most frequent finding in cases subsequently studied. It has been suggested that those patients with Klinefelter's syndrome, but with karyotypes other than XXY, be considered as variants.2 The sex chromosome pattern in the variants thus far recognized include XXXY, XXXXY, XXYY, XXXYY, and the mosaic karyotypes of XX/XXY, XY/XXY, XY/XXXY, XXXY/XXXXY, XX/XXY/ XXYYY. Although patients having these different karyotypes cannot be distinguished unequivocally on clinical grounds alone, it appears that the severity of mental retardation and disturbances of sex differentiation increase as the number of extra X chromosomes increases.

This case of Klinefelter's syndrome is reported to provide clinical and cytological findings of a patient with

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