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Pregnancy in Turner syndrome is inherently high-risk; the maternal death rate is 2%. [ 56 ] Usually, estrogen replacement therapy is used to spur the growth of secondary sexual characteristics at the time when puberty should onset.
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 ...
Turner syndrome, one such chromosomal intersex variation, is also associated with hypertension. [32] 23 to 50 percent of those with Turner syndrome are born with congenital heart abnormalities. [42] According to the Journal of the American Heart Association, fetuses with confirmed or suspected Turner syndrome should receive a fetal ...
Human infectious diseases may be characterized by their case fatality rate (CFR), the proportion of people diagnosed with a disease who die from it (cf. mortality rate).It should not be confused with the infection fatality rate (IFR), the estimated proportion of people infected by a disease-causing agent, including asymptomatic and undiagnosed infections, who die from the disease.
46, XX male syndrome, also known as de la Chapelle syndrome In this list, the karyotype is summarized by the number of chromosomes, followed by the sex chromosomes present in each cell. (In the second and third cases the karyotype varies from cell to cell, while in the last three cases, the genotype is normal but the phenotype is not.)
Marfan syndrome: 1 in 4,000 [14] Huntington's disease: 1 in 15,000 [15] Autosomal recessive Sickle cell anaemia: 1 in 625 [16] Cystic fibrosis: 1 in 2,000 Tay–Sachs disease: 1 in 3,000 Phenylketonuria: 1 in 12,000 Autosomal recessive polycystic kidney disease: 1 in 20,000 [17] Mucopolysaccharidoses: 1 in 25,000 Lysosomal acid lipase ...
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Turner syndrome was first described independently by Otto Ulrich in 1930 and Henry Turner in 1938. [29] 46,XX pure gonadal dysgenesis was first reported in 1960. [29] 46,XY pure gonadal dysgenesis, also known as Swyer syndrome, was first described by Gim Swyer in 1955. [29]