View source for 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 chromosome|XX]] and [[XY chromosome|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.

[[Category:Genetics]]
[[Category:Medical terminology]]
[[Category:Sexual dimorphism]]
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