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Syndrome trisomy 21 Medical Definition and Pronunciation
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Goodies: https://geni.us/medical-dictionary • Title: Syndrome, trisomy 21 • Syndrome, trisomy 21: A common chromosome disorder, often called Down syndrome, due to an extra chromosome number 21 (trisomy 21). The chromosome abnormality affects both the physical and intellectual development of the individual. Trisomy 21 (Down) syndrome is associated with a major risk for heart malformations, a lesser risk of duodenal atresia (part of the small intestines is not developed), and a minor but still significant risk of acute leukemia. Trisomy 21 is due to an extra copy of chromosome number 21. Instead of having the normal 2 copies of chromosome number 21, the person with Down syndrome has 3 copies of chromosome number 21. Confirmation of such a condition requires a chromosome study (analysis under the microscope of the chromosomes). A chromosome study is also valuable to rule in or out a translocation (a type of rearrangement) of chromosome 21 that can be heritable in which case it can give rise to more cases of Down syndrome in the family. The evaluation of the Down syndrome baby and the family by a medical geneticist is often useful. In Down syndrome there are certain characteristic features in the appearance which may individually be quite subtle but together permit a clinical diagnosis of Down syndrome to be made at birth. These signs of Down syndrome include slight flattening of the face, minimal squaring off of the top of the ear, a low bridge of the nose (lower than the usually flat nasal bridge of the normal newborn), an epicanthal fold (a fold of skin over top of the inner corner of the eye, which can also be seen less frequently in normal babies), a ring of tiny harmless white spots around the iris, and a little narrowing of the palate. There are many, many more minor malformations in Down syndrome. Down syndrome is also associated with a number of major malformations. For example, approximately a half of Down syndrome children are born with a heart defect, most often a hole between the two sides of the heart. For another example, Hirschsprung's disease (congenital aganglionic megacolon) which can cause intestinal obstruction occurs more frequently in children with Down syndrome than in other children. • How to pronounce Syndrome, trisomy 21 • definition of Syndrome, trisomy 21 • audio dictionary • How to say Syndrome, trisomy 21 • What is the meaning of Syndrome, trisomy 21 • Pronounce Syndrome, trisomy 21 • Medical dictionary • Medical definition of Syndrome, trisomy 21
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