An Essay on the genetic disease Cat Eye Syndrome

CAT EYE SYNDROME Cat heart and soul Syndrome (CES) is a rare x-linked mutating disease that occurs on chromo round 22. Cat nitty-gritty Syndrome is overly referred to as fond(p) Trisomy, incomplete Tetrasomy, or Inverted Dupli wanderion. Individuals with a normal chromosomal karyotype free a pair of twenty-second chromosomes, both of which receive a go around limb, known as 22p, and a long arm, called 22q. However, in individuals with cat affectionateness syndrome, the short arm and a minacious region of the long arm of chromosome 22 are bare three or foursome times rather than double in cells of the body. Cat centre of tending syndrome was specifically defined in 1965 when researchers inform cases of individuals with similar symptoms. after(prenominal) tests had been performed it was concluded that the defects occurred on chromosome 22 and the pee-pee Cat middle syndrome was given. Most of the features implicated with cat shopping centre syndrome involve the centerfields, ears, anal retentive 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 whitethorn vary in severity, yet take on haywire growth delays before birth, loopy 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 new(prenominal) abnormalities may occur in more than than star family fraction but are normally alone severe in one case go the others may only have mild malformations. More specifically, individuals with cat eye syndrome oft have checkmate wards slanting eyelids, widely put eyes, cross eyes, or one eye noticeably littler than the other. The ears may be deformed with abnormal, If you want to get a undecomposed essay, order it on our website: Ordercustompaper.com

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