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retrosternal mass with superior vena cava syndrome: arms elevated over head elicits facial plethora, distended neck veins and inspiratory stridor Phalen's maneuver: George S. Phalen: rheumatology, hand surgery: carpal tunnel syndrome: 30–60 seconds of full forced flexion of wrist elicits symptoms Piskaçek's sign: Ludwig Piskaçek: obstetrics ...
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.
Turner syndrome is the only full monosomy that is seen in humans — all other cases of full monosomy are lethal and the individual will not survive development. Cri du chat syndrome – (French for "cry of the cat" after the persons' malformed larynx) a partial monosomy caused by a deletion of the end of the short arm of chromosome 5
Grey Turner's sign refers to bruising of the flanks, the part of the body between the last rib and the top of the hip. The bruising appears as a blue discoloration, [ 1 ] and is a sign of retroperitoneal hemorrhage , or bleeding behind the peritoneum, which is a lining of the abdominal cavity.
Turner's Syndrome is an X-linked disorder with absence of one X-chromosome. Other exam findings of coarctation of the aorta include radio-femoral delay. This is when the femoral pulse is later than the radial pulse. The pulses in the lower extremity may be weaker than those of the upper extremity. Another exam finding is of varying blood ...
[citation needed] An example of trisomy in humans is Down syndrome, which is a developmental disorder caused by an extra copy of chromosome 21; the disorder is therefore also called "trisomy 21". [7] An example of monosomy in humans is Turner syndrome, where the individual is born with only one sex chromosome, an X. [8]
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 ...
An example is the hypersegmented neutrophil, which is seen only in megaloblastic anemias (not a single disease, but a set of closely related disease states). More often a test result is "pathognomonic" only because there has been a consensus to define the disease state in terms of the test result (such as diabetes mellitus being defined in ...