The chromosome constitution of a human phenotypic intersex.

SHORTLY AFTER the original description of sex chromatin (Barr and Bertram, 1949, see also Graham and Barr, 1952), application was made of the technique to the sexing of human hermaphrodites (Moore, Graham, and Barr, 1953). A great number of papers on this and similar subjects has appeared subsequently, in which the utility of the sex chromatin technique in diagnosing the genetic sex of many cell types has been demonstrated. To date, however, there have been very few investigations of human intersexes in which analysis of metaphase chromosomes has confirmed the results derived from sex chromatin determinations (Ford et al., 1953; Jacobs and Strong, 1959; Chu and Giles, 1959). Recently, a case of this type in a twelve-year-old individual has been investigated. As a result of clinical observations to be described below, it was believed that analysis of the chromosome complement of this individual might be valuable. For the purposes of an investigation of another kind, a technique for the karyotype analysis of human peripheral leukocytes had been developed (Nowell et al., 1958). Normally, mitosis is not observed in such cells in vivo. However, in our modification of the gradient culture method of Osgood and his colleagues (1955), high frequencies of mitosis had been observed. Results from the application of this technique as well as from observations on sex chromatin in the individual mentioned above will be described in this paper.

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