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Cri du Chat. Lynelle Dequina Aashini Patel. How You Get this Disease. Caused by the deletion of a segment of chromosome 5; has missing piece on chromosome 5 causes more deletions of other genes causes many of the symptoms related to this disorder
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Cri du Chat LynelleDequina Aashini Patel
How You Get this Disease • Caused by the deletion of a segment of chromosome 5; has missing piece on chromosome 5 • causes more deletions of other genes • causes many of the symptoms related to this disorder • The chromosomes break while the sperm/egg is developing • The disease develops during fertilization
Genetics Continued • Also called the 5p minus syndrome • Missing part of the “short arm” on chromosome 5 • The size of the missing piece varies • The larger the segment lost: the more severe the symptoms • Usually this disease is NOT inherited • Mutation occur during fertilization • Rare cases when parent gives a mutated chromosome to the offspring • This leads to the deletion later
Symptoms • Mental retardation • Small head (distinct facial features) • Far apart eyes • Ears are positioned lower • Little jaw • Round face • Heart defects • Difficulty walking/speaking • Hearing/seeing problems • Cry that sounds like a cat • High pitched • Because of the fact of the underdeveloped larynx • Slow development • Light weighted infant • Respiratory issues
Treatment & Prevention • Though there is no treatment for cri du chat, children can go through therapy to improve their language and motor skills. • There is no currently known method for prevention as well. Parents who have a balanced translocation associated with the disorder can go to genetic counselors who can help them understand the risks of having a child.
Cri du Chat History • The disorder was first identified by the French geneticist Jerome Lejeune in 1963. • In 80% of cases, the chromosome carrying the deletion came from the father instead of the mother.
Life with Cri du Chat • Children who have Cri du Chat may have eating problems, excessive drooling, chronic constipation, frequent ear infections, low/high muscle tones, plus many more. • Parents will have to schedule multiple therapies for their child in order to develop their skills.
Works Cited • http://learn.genetics.utah.edu/content/disorders/whataregd/cdc/ • http://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome • http://health.nytimes.com/health/guides/disease/cri-du-chat-syndrome/overview.html • http://www.wellness.com/reference/conditions/cri-du-chat-syndrome/prevention-and-treatment • http://learn.genetics.utah.edu/content/disorders/whataregd/cdc/ • http://ji-criduchat.blogspot.com/2009/02/interesting-facts_16.html • http://www.celebratingjulia.com/what.html