An Essay on the genetic disease Cat Eye Syndrome

CAT EYE SYNDROME Cat Eye Syndrome (CES) is a rarefied x-linked mutating disease that occurs on chromo round 22. Cat Eye Syndrome is overly referred to as fond(p) Trisomy, Partial Tetrasomy, or Inverted Dupli big cation. Individuals with a everyday chromosomal karyotype withdraw a pair of 22nd chromosomes, twain of which have a short girdle, 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 tending syndrome was specifically defined in 1965 when researchers inform cases of individuals with similar symptoms. later on tests had been performed it was concluded that the defects occurred on chromosome 22 and the pee-pee Cat essence syndrome was given. Most of the features implicated with cat affection syndrome involve the eyeballs, ears, anal retentive region, hea rt, and kidneys. The name Cat Eye Syndrome is derived from a distinctive eye abnormality 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 whitethorn vary in severity, but take on fruity 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 any case be influenced. These, and several other abnormalities m ay occur in more than than one family membe! r but are unremarkably alone severe in one case epoch the others may only have mild malformations. More specifically, individuals with cat eye syndrome oft have down wards slanting eyelids, widely spaced eyes, cross eyes, or one eye noticeably smaller than the other. The ears may be misshapen with abnormal, If you want to impersonate a undecomposed essay, order it on our website: OrderCustomPaper.com

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