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Copy of Cat Eye Syndrome Presentation

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david jacobus

on 21 March 2013

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Transcript of Copy of Cat Eye Syndrome Presentation

Cat Eye Syndrome Phenotypic Expression Slowed growth before birth
Ranging mental deficiencys
Malformations of nearly any organ
Downward slanting eyelids
Wide set eyes
Scoliosis
Cleft Palate
Misshapen ears
Bilateral Coloboma- lack of ocular tissue (cat eyes) •Chromosome 22, Inverted Duplication (22pter-22q11)
•Chromosome 22, Partial Tetrasomy (22pter-22q11)
•Chromosome 22, Partial Trisomy (22pter-22q11)
•Schmid-Fraccaro Syndrome Sources http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Cat%20Eye%20Syndrome

http://www.c22c.org/cateye.htm

http://jmg.bmj.com/content/36/3/237/F1.large.jpg Normal individuals have two 22nd chromosomes both of which have short arm 22p and long arm 22q
Those affected with CES suffer interstitial duplication
Results in trisomy or tetrasomy, meaning a short arm and a small portion of the long arm represented three or four times Frequency Affects 1 in 74,000
Does not affect one race or gender more heavily Support Groups Chromosome 22 Central Support
National Association of Partents with Visual Imparements
National Heart Association
As well as numerous other specific groups that support the myriad of other malfunctions CES may produce Inheritance Arises spontaneously
Research has shown that it may be passed down through families The disease may be passed on to a child whose parents are mosaic for CES (for whom no phenotypic abnormalities are present) Long Term Effects None of the symptoms are life threatening
Lifespan is normal
CES patients are able to reproduce However, each child of a CES parent has a 50% chance of inheriting the CES gene No purely CES national support groups But there are always links to Discrimination and Challenges There is a noticable physical difference between CES those not affected
Discrimination is common (particularly due to the ranging mental deficiencies and speech diffuclty (due to the cleft palate) The End The End
By Kate Wisialowski An example of: Trisomy 22 Other Names Chromosomes involved
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