Abstract

The chromosomes were studied in a human intersex (“true hermaphrodite”) characterized by ambiguous external genitalia and abdominal gonads consisting of a left ovotestis and a right primitive testis. The tissues sampled for chromosome studies (two skin biopsies, right gonad and blood) contained cells having 46, 47 and 49 chromosomes and XX, XXY and XXYYY sex chromosomes respectively. This finding strongly supports the concept that testicular tissue develops only in the presence of the Y chromosome. It is considered plausible that all human íntersexes are chromosomal mosaics. The cytological investigations of the apparent exceptions so far reported in the literature (intersexes with XX sex chromosomes) have been confined to a single tissue specimen.

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