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The reason for this is that, in each somatic cell of a normal female, one of the X chromosomes is randomly deactivated.This deactivated X chromosome can be seen as a small, dark-staining structure—the Barr body—in the cell nucleus. 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. 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.(5) When a Y chromosome is present, early embryonic testes develop around the 10th week of pregnancy.In the absence of both a Y chromosome and the influence of a testis-determining factor (TDF), ovaries develop.The female has two X chromosomes, and all female egg cells normally carry a single X.The eggs fertilized by X-bearing sperm become females (XX), whereas those fertilized by Y-bearing sperm become males (XY).

In addition, some males are born 46XX due to the translocation of a tiny section of the sex determining region of the Y chromosome.The biological differences between men and women result from two processes: sex determination and differentiation.(3) The biological process of sex determination controls whether the male or female sexual differentiation pathway will be followed.The process of biological sex differentiation (development of a given sex) involves many genetically regulated, hierarchical developmental steps.Unlike the paired autosomes, in which each member normally carries alleles (forms) of the same genes, the paired sex chromosomes do not carry an identical complement of genetic information.The X chromosome, being larger, carries many more genes than does the Y.

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Research suggests, however, that in a few births per thousand some individuals will be born with a single sex chromosome (45X or 45Y) (sex monosomies) and some with three or more sex chromosomes (47XXX, 47XYY or 47XXY, etc.) (sex polysomies).

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