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Trisomy 18, also known as Edwards syndrome, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18. [3] Many parts of the body are affected. [ 3 ] Babies are often born small and have heart defects . [ 3 ]
John Hilton Edwards (26 March 1928 – 11 October 2007) was a British medical geneticist. Edwards reported the first description of a syndrome of multiple congenital malformations associated the presence of an extra chromosome. The extra chromosome belonged to the E group of chromosomes which consisted of chromosomes 16, 17 and 18.
This page was last edited on 28 April 2023, at 21:46 (UTC).; Text is available under the Creative Commons Attribution-ShareAlike 4.0 License; additional terms may ...
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 ...
Ectrodactyly–ectodermal dysplasia–cleft syndrome; Edwards syndrome; EEM syndrome; Egg drop syndrome; Ehlers–Danlos syndrome; Eiken syndrome; Einstein syndrome; Eisenmenger's syndrome; Eldomery-Sutton syndrome; Elejalde syndrome; Ellis–van Creveld syndrome; Emanuel syndrome; Empty nest syndrome; Empty nose syndrome; Empty sella syndrome
Cardiorenal syndrome: Kidney Cat eye syndrome: CHARGE syndrome: Coffin–Lowry syndrome: genetic (RPS6KA3 gene mutation, Chromosome X) Costello syndrome: Down syndrome: genetic (Chromosome 21) Dressler syndrome: autoimmune inflammatory reaction secondary to MI. Edwards syndrome: genetic (Chromosome 18) Eisenmenger's syndrome: Ellis–van ...
Hypertelorism is a symptom in a variety of syndromes, including Edwards syndrome (trisomy 18), 1q21.1 duplication syndrome, basal cell nevus syndrome, DiGeorge syndrome and Loeys–Dietz syndrome.
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