<unk> , also known as X0/XY<unk>  and mixed gonadal dysgenesis, is a rare mutation of sex development in humans associated with sex chromosome aneuploidy and<unk>  of the Y chromosome. This is called a mosaic karyotype because, like tiles in mosaic floors or walls, there is more than one type of cell. It is a fairly rare chromosomal disorder, with an estimated incidence rate of about 1 in 15,000 live births. The clinical manifestations are highly variable, ranging from partial virilisation and ambiguous genitalia at birth, to patients with completely male or female gonads. Most individuals with this karyotype have apparently normal male genitalia, and a minority have female genitalia, with a significant number of individuals showing genital abnormalities or intersex characteristics. A significantly higher than normal number of other developmental abnormalities are also found in individuals with X0/XY<unk> . Psychomotor development is normal.
45,X/46,XY mosaicism
XY gonadal dysgenesis
XX gonadal dysgenesis
Y chromosome microdeletion
Distal trisomy 10q
Small supernumerary marker chromosome
XY sex-determination system
Tetrasomy 18p