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Turner syndrome (TS), commonly known as 45,X, or 45,X0, [note 1] is a chromosomal disorder in which female cells have only one X chromosome instead of two, or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome.
The most common abnormality the test can screen is trisomy 21 (Down syndrome).In addition to Down syndrome, the triple and quadruple screens assess risk for fetal trisomy 18 also known as Edwards syndrome, open neural tube defects, and may also detect an increased risk of Turner syndrome, triploidy, trisomy 16 mosaicism, fetal death, Smith–Lemli–Opitz syndrome, and steroid sulfatase ...
The test can also detect disorders that affect the sex-linked chromosomes such as Turner's Syndrome, Triple X Syndrome, and Klinefelter Syndrome. NIPT can also detect congenital heart disease such as atrioventricular septal defect, and this disease can also be a side effect in the conditions mentioned above.
Early forms of genetic testing which began in the 1950s involved counting the number of chromosomes per cell. Deviations from the expected number of chromosomes (46 in humans) could lead to a diagnosis of certain genetic conditions such as trisomy 21 (Down syndrome) or monosomy X (Turner syndrome). [7]
thoracic outlet syndrome: obliteration of radial pulse with manoeuvres Alexander's law: Gustav Alexander: neurology, neurosurgery, ENT: vestibular lesions: describes nystagmus in vestibular lesions Allen's test: Edgar Van Nuys Allen: vascular surgery, critical care [1] arterial supply of the hand: tests for presence of palmar ulnar-radial ...
Based on its sensitivity and specificity, it constitutes an advanced screening test and that positive results require confirmation by an invasive test, and that while effective in the diagnosis of Down syndrome, it cannot assess half the abnormalities detected by invasive testing. The test is not recommended for general use until results from ...
Jason Davis/WireImage Gerry Turner had to take an STD test before becoming the first Golden Bachelor — but he didn’t know what to expect from the process. During a Tuesday, November 21 ...
Turner syndrome results from a single X chromosome (45,X or 45,X0). Klinefelter syndrome, the most common male chromosomal disease, otherwise known as 47,XXY, is caused by an extra X chromosome. Edwards syndrome is caused by trisomy (three copies) of chromosome 18. Down syndrome, a common chromosomal disease, is caused by trisomy of chromosome 21.