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46,XX/46,XY is either a chimeric or mosaic genetic condition characterized by the presence of some cells that express a 46,XX karyotype and some cells that express a 46,XY karyotype in a single human being. [1] [2] [3] While some individuals with this condition may be classified as intersex, others may have typical male or female characteristics.
45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis, [1] is a mutation of sex development in humans associated with sex chromosome aneuploidy and mosaicism of the Y chromosome. It is a fairly rare chromosomal disorder at birth, with an estimated incidence rate of about 1 in 15,000 live births. [2]
In rare cases, intersex conditions can be caused by mosaicism where some cells in the body have XX and others XY chromosomes . [ 15 ] [ 16 ] In the fruit fly Drosophila melanogaster , where a fly possessing two X chromosomes is a female and a fly possessing a single X chromosome is a sterile male, a loss of an X chromosome early in embryonic ...
Mixed gonadal dysgenesis, also known as X0/XY mosaicism or partial gonadal dysgenesis, [21] is a sex development difference associated with sex chromosome aneuploidy and mosaicism of the Y chromosome. [14] Mixed gonadal dysgenesis is the presence of two or more germ line cells. [23]
As of 2010, there have been at least 11 reported cases of fertility in humans with ovotesticular syndrome in the scientific literature, [4] with one case of a person with XY-predominant (96%) mosaic giving birth. [30] All known offspring have been male. [31] There has been at least one case of an individual being fertile as a male. [28]
Sex chromosome anomalies belong to a group of genetic conditions that are caused or affected by the loss, damage or addition of one or both sex chromosomes (also called gonosomes).
After a two-year hiatus Focus Features is back in the documentary theatrical game with Julie Cohen’s “Every Body,” a film that explores the lives of three intersex people. Defined as those ...
This is an accepted version of this page This is the latest accepted revision, reviewed on 5 January 2025. Atypical congenital variations of sex characteristics This article is about intersex in humans. For intersex in other animals, see Intersex (biology). Not to be confused with Hermaphrodite. Intersex topics Human rights and legal issues Compulsory sterilization Discrimination Human rights ...