An Essay on the genetic disease Cat Eye Syndrome

CAT EYE SYNDROME Cat Eye Syndrome (CES) is a out of date x-linked mutating disease that occurs on chromo round 22. Cat Eye Syndrome is besides referred to as fond(p) Trisomy, Partial Tetrasomy, or Inverted Dupli rangeion. Individuals with a practice chromosomal karyotype withdraw a pair of 22nd chromosomes, some(prenominal) of which have a short fort, 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 clock rather than twice in cells of the body. Cat centre of tutelage syndrome was specifically defined in 1965 when researchers inform cases of individuals with similar symptoms. aft(prenominal) tests had been performed it was concluded that the defects occurred on chromosome 22 and the pee-pee Cat centerfield syndrome was given. Most of the features implicated with cat centre of attention syndrome involve the hearts, ears, anal region, heart, and kidneys. The name Cat Eye Syndrome is derived from a distinctive eye mental defectiveness 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 spiritless 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 as well as be influenced. These, and several other abnormalities may occur in more than ! than one family member but are unremarkably alone severe in one case magic spell the others may only have mild malformations. More specifically, individuals with cat eye syndrome oft have down wards slanting eyelids, wide spaced eyes, cross eyes, or one eye observably smaller than the other. The ears may be misshapen with abnormal, If you want to chafe a undecomposed essay, order it on our website: OrderCustomPaper.com

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