An Essay on the genetic disease Cat Eye Syndrome

CAT EYE SYNDROME Cat Eye Syndrome (CES) is a idealistic x-linked mutating disease that occurs on chromo round 22. Cat Eye Syndrome is to a fault referred to as fond(p) Trisomy, Partial Tetrasomy, or Inverted Dupli sanctifyion. Individuals with a modal(prenominal) chromosomal karyotype withdraw a pair of 22nd chromosomes, both of which have a short artillery, known as 22p, and a long arm, called 22q. However, in individuals with cat affectionateness syndrome, the short arm and a grim region of the long arm of chromosome 22 are manifest three or four propagation rather than twice in cells of the body. Cat centre of worry syndrome was specifically defined in 1965 when researchers inform cases of individuals with similar symptoms. after tests had been performed it was concluded that the defects occurred on chromosome 22 and the pee-pee Cat centre of attention syndrome was given. Most of the features implicated with cat center of attention syndrome involve the malls, ea rs, anal region, heart, and kidneys. The name Cat Eye Syndrome is derived from a distinctive eye 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, but take on flaccid growth delays before birth, mild mental deficiency, and malformations of the skull and seventh cranial nerve region.

The heart, the kidneys, and/or the anal region may in like manner be influenced. These, and several o ther abnormalities may occur in more than t! han one family member but are ordinarily alone severe in one case charm the others may only have mild malformations. More specifically, individuals with cat eye syndrome oft have down wards slanting eyelids, astray spaced eyes, cross eyes, or one eye perceptibly smaller than the other. The ears may be misshapen with abnormal, If you want to procure a undecomposed essay, order it on our website: OrderCustomPaper.com

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