Sex vesicle “entrapment”: Translocation or nonhomologous recombination of misaligned Yp and Xp as alternative mechanisms for abnormal inheritance of the sex-determining region

Abstract

Abnormal inheritance of the sex determining region, normally located on Yp, results in about 1 in 20,000 phenotypic males with a 46,XX genotype. Studies to date indicate that many 46,XX males apparently arise due to a balanced, yet abnormal, nonhomologous interchange of Xp and Yp termini. However, 2 of the 5 XX males we report here have 3 copies of the pseudoautosomal locus, MIC2. Thus, they appear to have inherited the sex determining region as a result of Yp sequences being added onto the X pseudoautosomal region. Such an unequal, extremely nonhomologous interchange could alternatively be considered to arise from an unbalanced translocation of Yp to Xp. Our results suggest that very unequal interchange or translocation of Yp sequences onto the X pseudoautosomal region is not as rare a mechanism for XX males as originally thought. We also suggest that sex vesicle “entrapment” favors the association of a Yp fragment to the X pseudoautosomal region over a translocation to either Xq or an autosome.