Human XX males with Y single-copy DNA fragments

Abstract

In humans, XX maleness is the best known example of a sex reversal syndrome occurring with an incidence of one XX male among approximately 20,000 to 30,000 newborn boys^1–4. The karyotypes of the majority of these individuals are apparently normal, with respect to the numbers and structure of the chromosomes, but is in contradiction with the phenotypic sex which they display. XX maleness may be either a non Y-related mechanism triggered by a mutation on another chromosome^3–5 or could be the result of the expression of some cytogenetically undetectable Y chromosome material present in the genome of such individuals. Recently, a number of human Y-specific single copy probes have been isolated^6,7. In this study, using several of these Y-specific probes we definitively demonstrate the presence of Y-chromosomal material in the genome of some 46,XX human males. These XX males carry only a fraction of the human Y chromosome. In the three positive cases reported here, presence of inclusive overlapping chromosomal fragments has been detected, implying a genetic heterogeneity of these patients.