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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1979 Dec;16(6):480–483. doi: 10.1136/jmg.16.6.480

A case of complete testicular feminisation and 47,XXY karyotype.

M Gerli, G Migliorini, V Bocchini, G Venti, R Ferrarese, E Donti, G Rosi
PMCID: PMC1012597  PMID: 575389

Abstract

A very rare case of complete testicular feminisation with a 47,XXY sex chromosome complement is described. The X-chromatin is positive. The subject studied, who belongs to a family in which four other members have Morris's syndrome and have a 46,XY karyotype, is a perfect phenotypic female. The endocrine situation is unique and resembles, in part, that of subjects with Klinefelter's syndrome.

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Selected References

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