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XO/XY mosaicism and non-fluorescing Y chromosome in a male

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Summary

An adult male of short stature and with underdeveloped external genitalia is described, who carried out a number of sexual assaults on young women. He proved to have XO/XY mosaicism and a non-fluorescing Y chromosome. It was considered to be a terminal deletion on morphological grounds. It is suggested, on the evidence of the small number of XO/XY mosaics examined by appropriate staining methods, that an abnormal Y chromosome, whether terminally deleted or non-fluorescing owing to an altered chemical state, predisposes to anaphase lagging and non-disjunction.

Of eleven reported cases of XO/XY mosaicism with a non-fluorescing Y chromosome, this is the fifth of male phenotype. The severe behaviour disturbance of early onset is considered to be probably causally associated with the chromosome anomaly.

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Richards, B.W., Stewart, A. XO/XY mosaicism and non-fluorescing Y chromosome in a male. Hum Genet 45, 331–338 (1978). https://doi.org/10.1007/BF00278731

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