Prenatal 45,X karyotype, showing an unpaired X at the lower right<unk>  may be diagnosed by amniocentesis or chorionic villus sampling during pregnancy. Usually, fetuses with<unk>  can be identified by abnormal ultrasound findings (i.e., heart defect, kidney abnormality, cystic hygroma, ascites). In a study of 19 European registries, 67.2% of prenatally diagnosed cases of<unk>  were detected by abnormalities on ultrasound. 69.1% of cases had one anomaly present, and 30.9% had two or more anomalies. An increased risk of<unk>  may also be indicated by abnormal triple or quadruple maternal serum screen. The fetuses diagnosed through positive maternal serum screening are more often found to have a mosaic karyotype than those diagnosed based on ultrasonographic abnormalities, and conversely, those with mosaic karyotypes are less likely to have associated ultrasound abnormalities. Postnatal<unk>  can be diagnosed postnatally at any age. Often, it is diagnosed at birth due to heart problems, an unusually wide neck or swelling of the hands and feet. However, it is also common for it to go undiagnosed for several years, often until the girl reaches the age of puberty and fails to develop typically (the changes associated with puberty do not occur). In childhood, a short stature can be indicative of<unk> . A test called a karyotype, also known as a chromosome analysis, analyzes the chromosomal composition of the individual. This is the test of choice to diagnose<unk> .
Turner syndrome
Growth hormone deficiency
Klinefelter syndrome
Kallmann syndrome
Malouf syndrome
XYY syndrome
XX male syndrome
Smith–Magenis syndrome