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Cat Eye Syndrome

By Hannah
by

Hannah Paul

on 20 January 2013

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Transcript of Cat Eye Syndrome

0 + - = 9 8 7 1 2 3 4 5 6 c By Hannah. Symptoms: -structure defect by the iris of the eye
-skin tags to the ear
-narrowing or closure of the anus Parental Tests There is no phenotype and it is not a trait passed from heredity so there is no way to see the chromosome defect. What is it? Other names for Cat Eye Syndrome: -Schmid-Fraccaro syndrome


-CES


-Chromosome 22 partial tetrasomy


-INV DUP(22)(Q11) What is the cause? The cause is when the chromosome number 22 is not inherited and that is when the symptoms show as the child is developing or after the child is born. These are mild reactions. What is affected by the disease? Chromosome #22 The
End:) Cat Eye Syndrome Population Cat eye syndrome is a rare congenital disease that affects the heart, and personal appearance from the iris of the eye that appears a little hole. Cat Eye Syndrome Treatment: There is no cure for it, but there are treatments to help with the disease:

-Cardiac evaluation for possible heart anomalies

-Eye examination
Surgery is for some gastrointestinal manifestations.

-A renal ultrasound examination Medical Assistance: How is it inherited? As the baby/child is developing in the holder's stomach, the chromosome 22 is not fully accessed by the child and that is how cat eye syndrome is in affect. No there will be no medical assistance needed besides extra parental guidance for the disease. But since it affects the eyes, ears, and other parts of the body, prescription medication is possibly needed; also with optional glasses or eye protectors. Depending on the decisions for recovery, cat eye syndrome is unfortunately able to last a life time, but with the right treatment, there could possibly be a cure. The population that is affected by cat eye syndrome is definitely babies. The disease is already diagnosed before they are born because the chromosome number 22 is not delivered properly. Prevention There is no prevention for cat eye syndrome because there is "no associated phenotype." This could be from both sexes; which is a 50% chance. Future There could be a possibility of kids for in the future because it only affects the person with the disease-not heredity. Also, the disease affects the iris of the eye not anything particular to having children. Cures The cures have always been the same which is the problems that the individual has, but the recent news has proven that the disease should be evident at birth. References: -http://rarediseases.info.nih.gov/GARD/Condition/26/Cat_Eye_syndrome.aspx

-http://fdna.com/resource-center/conditions-and-diseases/cat-eye-syndrome

-http://ghr.nlm.nih.gov/chromosome/22

-http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195
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