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Cat Eye Syndrome Research Paper

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Infants who are severely affected by symptoms, such as heart and kidney malformations, and are unresponsive to treatment are known to die during infancy . A majority of individuals with Cat Eye Syndrome have a normal life expectancy with appropriate treatment.
Cat eye syndrome was specifically defined in 1965 when researchers reported cases of individuals with similar symptoms. After tests had been performed it was concluded that the defects occurred on chromosome 22 and the name Cat eye syndrome was given. Most of the features implicated with cat eye syndrome involve the eyes, ears, anal region, heart, and kidneys.More specifically, individuals with cat eye syndrome frequently have downwards slanting eyelids, widely spaced eyes, crossed eyes, or one eye noticeably smaller than the other.
Because cat eye syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person. For example, congenital heart defects; anal atresia; cleft lip and/or palate; …show more content…
Individuals with a normal chromosomal makeup have two 22nd chromosomes, both of which have a short arm, known as 22 ,and a long arm, known as 22. However, in individuals with CES, the short arm and a small region of the long arm of chromosome 22 are present four times “partial tetrasomy”rather than twice in cells of the body. In a small number of people with CES, 22 region is present in 3 copies “partial trisomy” The name “cat eye syndrome” is derived from a distinctive eye (ocular) abnormality that is present in a little over half affected individuals. This defect, known as a coloboma, usually appears as a cleft or gap in the iris below the pupil, and the elongated pupil therefore resembles the appearance of a cat’s eye. There are, however, many other features

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