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(8) SRY-box-related (SOX) genes have been identified on autosomes (9) and mutations in the SRY or SOX gene have been implicated in sex reversal.
(10) In other words, individuals with SRY mutations should develop as females.
Gender, typically described in terms of masculinity and femininity, is a social construction that varies across different cultures and over time.
(6) There are a number of cultures, for example, in which greater gender diversity exists and sex and gender are not always neatly divided along binary lines such as male and female or homosexual and heterosexual.
(13) Typical sexual development is the result of numerous genes, and mutation in any of these genes can result in partial or complete failure of sex differentiation.
These include mutations or structural anomalies of the SRY region on the Y chromosome resulting in XY gonadal dysgenesis, XX males, or XY females; defects of androgen biosynthesis or androgen receptors, and others.
The Berdache in North America, the fa’afafine (Samoan for “the way of a woman”) in the Pacific, and the kathoey in Thailand are all examples of different gender categories that differ from the traditional Western division of people into males and females.
Further, among certain North American native communities, gender is seen more in terms of a continuum than categories, with special acknowledgement of “two-spirited” people who encompass both masculine and feminine qualities and characteristics.
The Y chromosome acts as a dominant inducer of male phenotype and individuals having four X chromosomes and one Y chromosome (49XXXXY) are phenotypically male.
(15)Aneuploidy is the condition of having less than (monosomy) or more than (polysomy) the normal diploid number of chromosomes.
Aneuploidy occurs in at least 5% of all pregnancies and is the most commonly recognized chromosome abnormality in humans.
Prenatal diagnosis of SCA is increasing because of the widespread use of these technologies.
(18)The high frequency of individuals with SCA is due to the fact that their effects are generally not as severe as autosomal abnormalities and are rarely lethal.
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).