A case of complete testicular feminisation and 47,XXY karyotype.
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.
D000328:Adult; D013734:Androgen-Insensitivity Syndrome / Q000235:genetics*; D004261:DNA Replication; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D012728:Sex Chromatin / Q000648:ultrastructure; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013577:Syndrome; D014960:X Chromosome