46,XX/46,XY
46,XX/46,XY
46,XX/46,XY (pronounced "forty-six, double X / forty-six, double Y") is a rare form of chimerism in which an individual has both XX and XY cells. This condition is also known as mosaic gonadal dysgenesis or true hermaphroditism.
Etymology
The term "46,XX/46,XY" is derived from the karyotype notation used in genetics. The number "46" refers to the total number of chromosomes in a typical human cell, while "XX" and "XY" denote the sex chromosomes. The slash ("/") indicates the presence of both types of sex chromosomes in different cells of the same individual.
Definition
In 46,XX/46,XY chimerism, some cells have the typical female karyotype (46,XX), while others have the typical male karyotype (46,XY). This can result in a variety of physical characteristics, including ambiguous genitalia and mixed secondary sexual characteristics. The condition is usually diagnosed through genetic testing.
Related Terms
- Chimerism: The presence of two or more genetically distinct cell lines in an organism, either naturally or as a result of transplantation.
- Karyotype: The number and visual appearance of the chromosomes in the cell nuclei of an organism or species.
- Genetic testing: The sequencing of human DNA in order to discover genetic differences, anomalies, or mutations that may prove pathological.
- Ambiguous genitalia: A birth defect where the outer genitals do not have the typical appearance of either a boy or a girl.
- Secondary sexual characteristics: Features that appear during puberty in humans, and at sexual maturity in other animals.
External links
- Medical encyclopedia article on 46,XX/46,XY
- Wikipedia's article - 46,XX/46,XY
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