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Cri Du Chat Syndrome

Cri Du Chat Syndrome

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Cri Du Chat Syndrome

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  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: http://www.youtube.com/watch?v=uVobDScjtrw

  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 16-18 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. 2011. <http://www.exampleessays.com/viewpaper/28397.html>. • "Cri-du-chat Syndrome - Genetics Home Reference." Genetics Home Reference - Your Guide to Understanding Genetic Conditions. Web. 26 Jan. 2011. <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. 2011. <http://groups.yahoo.com/group/Cri-Du-Chat_Syndrome/>.