Identification of<unk> ,X/46,XY karyotype has significant clinical implications due to known effects on growth, hormonal balance, gonadal development and histology.<unk> ,X/46,XY is diagnosed by examining the chromosomes in a blood sample. The age of diagnosis varies depending on manifestations of disease prompting reason for cytogenetic testing. Many patients are diagnosed prenatally due to fetal factors (increased nuchal fold, or abnormal levels of serum), maternal age or abnormal ultrasounds, while others will be diagnosed postnatal due to external genital malformation. It is not uncommon for patients to be diagnosed later in life due to short stature or delayed puberty, or a combination of both.<unk>  can be detected prenatally through amniocentesis however, it was determined that the proportion of<unk> ,X cells in the amniotic fluid cannot predict any phenotypic outcomes, often making prenatal genetic counselling difficult.
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