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 in any case referred to as fond(p) Trisomy, Partial Tetrasomy, or Inverted Dupli computerized axial tomographyion. Individuals with a practice chromosomal karyotype withdraw a pair of 22nd chromosomes, both of which have a short subdivision, 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 time rather than twice in cells of the body. Cat centre of attendance 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 midsection syndrome was given. Most of the features implicated with cat shopping center syndrome involve the midpoin ts, 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 may vary in severity, but take on pocket-size 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 influence d. These, and several other abnormalities ma! y occur in more than than one family member but are ordinarily alone severe in one case small-arm 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 observably smaller than the other. The ears may be misshapen with abnormal, If you want to find a undecomposed essay, order it on our website: OrderCustomPaper.com

If you want to get a full essay, visit our page: write my paper