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Cri Du Chat Syndrome By: Melanie Findlay.

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Presentation on theme: "Cri Du Chat Syndrome By: Melanie Findlay."— Presentation transcript:

1 Cri Du Chat Syndrome By: Melanie Findlay

2 Alternate Names cat cry syndrome chromosome 5p- Syndrome
5p deletion syndrome monosomy 5p 5p- syndrome

3 Who is most likely to get the disorder?
This condition is found in people of all ethnic backgrounds, boys or girls. Video about the disease:

4 Symptoms Cat-like infant crying Cat-like cry in infants
Abnormal laryngeal development in infants Low birth weight Severe mental retardation Severe growth retardation Small head Reduced muscle tone Round face Low set deformed ears Wide-set eyes Epicanthic folds Respiratory problems Feeding problems Scoliosis Cardiovascular defects

5 Symptoms Cont. Language delay Self-injury behavior
Communication Difficulties Head Banging Self-biting Low I Q Creases on the palm of hand Strabismus Simian crease Slightly short hand bones Malocclusion Harelip Cleft palate Failure to thrive Shuffling gait

6 Common? Cri-du-chat syndrome occurs in an estimated 1 in 20,000 to 50,000 newborns. Therefore it isn’t very common at all.

7 Deadly? Shorten lifespan?
Although there is no cure, it is not deadly, and cannot shorten your lifespan.

8 Can you be tested? When? How?
Testing can be done from a blood test which involves Karyotyping, where staining and examining chromosomes under a microscope is done. Cri du chat can also be detected before birth about into pregnancy. The mother would have to undergo what is called amniocentesis. Amniocentesis is a procedure in which a needle is inserted into the abdomen and into the uterus to withdraw a sample of the amniotic fluid that surrounds the baby. The fluid or the cells that are in the fluid can be tested to

9 Treatment? Cure or treat symptoms?
Treatment includes supportive care and development therapy

10 Support groups Health Share International is a support group that is online for people who can’t drive cars or get to a support group somewhere else. You can add friends who are just like you, and discuss your problems together.

11 Interesting Facts! The geneticist Jerome Lejeune identified cri-du-chat syndrome in 1963. He also discovered the genetic abnormality that causes Down syndrome. Cri-du-chat is one of the most common syndromes caused by a chromosomal deletion. Between 1 in 20,000 and 1 in 50,000 babies. In 80 percent of the cases, the chromosome carrying the deletion comes from the father's sperm rather than the mother's egg. When deletions occur during the formation of an egg or sperm, it is caused by unequal recombination during meiosis. When unequal recombination occurs at this location on chromosome 5, it causes cri-du-chat syndrome.

12 Bibliography "Cri Du Chat Essay." Example Essays.com - Over 100,000 Essays, Term Papers and Book Reports! Web. 26 Jan <http://www.exampleessays.com/viewpaper/ html>. "Cri-du-chat Syndrome - Genetics Home Reference." Genetics Home Reference - Your Guide to Understanding Genetic Conditions. Web. 26 Jan <http://www.ghr.nlm.nih.gov/condition/cri- du-chat-syndrome>. "Cri-Du-Chat_Syndrome : Support Group." Yahoo! Groups - Join or Create Groups, Clubs, Forums & Communities. Web. 26 Jan <http://groups.yahoo.com/group/Cri-Du- Chat_Syndrome/>.


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