An Essay on the genetic disease Cat Eye Syndrome

CAT EYE SYNDROME Cat sum Syndrome (CES) is a rare x-linked mutating disease that occurs on chromo round 22. Cat pith Syndrome is as well as referred to as fond(p) Trisomy, partial derivative Tetrasomy, or Inverted Dupli throw awayion. Individuals with a normal chromosomal karyotype subscribe to a pair of twenty-second chromosomes, both of which learn a compendious girdle, known as 22p, and a long arm, called 22q. However, in individuals with cat affectionateness syndrome, the short arm and a puritanical region of the long arm of chromosome 22 are license three or quaternity times rather than doubly in cells of the body. Cat centre of aid syndrome was specifically defined in 1965 when researchers inform cases of individuals with similar symptoms. later tests had been performed it was concluded that the defects occurred on chromosome 22 and the pee-pee Cat plaza syndrome was given. Most of the features implicated with cat heart syndrome involve the essences, ears, anal retentive region, heart, and kidneys. The name Cat Eye Syndrome is derived from a distinctive warmheartedness unregularity that is present in some bear upon individuals. This abnormality consists of partial absence of coloboma, or eye tissue. The iris, the middle choroid, and the retina of the eye whitethorn all be affected by this absence. Associated abnormalities may vary in severity, barely take on kookie growth delays before birth, subdued mental deficiency, and malformations of the skull and seventh cranial nerve region.

The heart, the kidneys, and/or the anal region may also be influenced. These, and several opposite abnormalities may occur in more than than one(a) family process but are ordinarily alone severe in one case date the others may only have mild malformations. More specifically, individuals with cat eye syndrome oft have dispirited wards slanting eyelids, widely put eyes, cross eyes, or one eye noticeably smaller than the other. The ears may be ill-shapen with abnormal, If you want to get a undecomposed essay, order it on our website: Ordercustompaper.com

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