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Although this might imply that the Y chromosome is not a prerequisite of maleness, it has not been excluded that a small male-determining region of the Y may have been translocated to an autosome without producing a recognisable karyotypic change, XY males have a slightly reduced testis size but are usually fertile.

Cytological scrutiny of mitotic and meiotic chromosomes (including chromosome banding) has revealed no evidence for a Y–autosome translocation, although a small translocation undetectable by the methods used cannot be ruled out (reviewed in ref.

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Absence of SRY in peripheral blood was documented by fluorescence in situ hybridization (FISH) and PCR analysis in all nine affected individuals, and by FISH analysis on gonadal sections with testicular tissue in four affected individuals.

By quantitative PCR, a duplication of the SOX9 gene was excluded.

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IT is generally considered that the Y chromosome is necessary for the development of the mammalian testis and the consequent male phenotype.

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