A patient is described showing a female phenotype, but with under-development of secondary sexual characteristics and primary amenorrhoea. Chromosome analysis in skin and blood cultures revealed the presence of nuclei with 44 autosomes and an XO, XX or XXX sex chromosome complement; metaphases with an XX and XXX constitution were, however, very scanty.
The sex chromatin pattern gave strong support to the assumption that there was a triple mosaicism of the XO/XX/XXX type, as nuclei with one and nuclei with two Barr bodies were found – with a high proportion of negative nuclei – in buccal and vaginal epithelial cells and cultured fibroblasts. Some problems of a quantitative nature in this respect are discussed.
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