Genotypic sex or genetic sex, also referred to as chromosomal sex or karyotypic sex, is determined by the combination of sex chromosomes an individual inherits. In most mammals, including humans:[1]
- XX specifies müllerian genotypic sex (two X chromosomes).
- XY specifies wolffian genotypic sex (one X and one Y chromosome).
These sex chromosomes typically determine an individual’s biological or anatomical sex. While the X chromosome carries a wide variety of genes, the Y chromosome is shorter and contains fewer genes, including the pivotal SRY gene responsible for wolffian development.[2][3] However, there are intersex genotypes or karyotypes (intergenotypes), such as:
- 45,X/46,XY mosaicism
- Turner (X0)
- XXY (Klinefelter's)
- XYY (Jacob's)
- Triple X (XXX)
- De La Chapelle (XX)
- Swyer's (XY)
- XYYY
- Tetrasomy X (XXXX)
- XXYY
- XXYYY
- XXXYY
- XXXXY
- XYYYY
- Pentasomy X (XXXXX)
- SERKAL (XX)
Though most intergenotypic variations are often labeled as syndromes, some may consider their traits in other ways.