Some patients display cognitive problems, but difficulties with visuospatial perception are most common. Congenital anomalies include abnormalities of the lymphatic system cardiac defects, especially coarctation of the aorta and bicuspid aortic valve and renal anomalies.Īlthough ID is rare, delays in both gross and fine motor development are common in females with Turner syndrome. The thorax is broad, with increased distance between the nipples. In older children and adults with Turner syndrome, short stature and webbing of the neck are commonly seen. At birth, infants may manifest pedal edema or diffuse edema. Patients with Turner syndrome typically have a female phenotype, although those with a cell line including a Y chromosome may have some degree of virilization, often with ambiguous genitalia. Unlike other aneuploidy syndromes, the frequency of Turner syndrome does not increase with advancing maternal age. Turner syndrome occurs in about 1 in 4000 female live births worldwide but it is much more common in stillbirths and miscarriages. Mosaicism is not uncommon, however, with a separate cell line containing either a normal 46,XX or XY karyotype, or 46 chromosomes including a structurally rearranged X or Y.
Turner syndrome is associated with a 45,X karyotype, with a single X chromosome. Mikhail, in Swaiman's Pediatric Neurology (Sixth Edition), 2017 Turner Syndrome
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