Dr Henry H. Turner first described Turner syndrome in 1938 in a published report describing a series of patients with infantilism, webbing of the neck, and cubitus valgus. Turner syndrome is the most common sex-chromosome abnormality in females. The condition affects approximately 1 in 2,500 live-born females and requires a chromosomal analysis for definitive diagnosis. Multiple karyotypes (eg, 45,X monosomy, 45,X/46,XX mosaicism, and structurally abnormal X) have been identified that are associated with variable presentations along the Turner syndrome phenotype spectrum. Girls with 45,X monosomy typically have the most severe phenotype.

Most prenatally detected cases of Turner syndrome are diagnosed as a result of amniocentesis or chorionic villus sampling performed for other reasons. Prenatal ultrasonography revealing thickening of the nuchal folds, cystic hygroma, renal anomalies, or left-sided heart anomalies also may increase prenatal suspicion for Turner syndrome.

In the neonatal period, a diagnosis may be suggestive by the presence of...

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