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Cri-du-Chat Isabella Fiorentino, Anahí Flor. Block 6.

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Presentation on theme: "Cri-du-Chat Isabella Fiorentino, Anahí Flor. Block 6."— Presentation transcript:

1 Cri-du-Chat Isabella Fiorentino, Anahí Flor. Block 6

2 Description O Known as “Cat´s cry” or 5p-. O Result of deletion in chromosome number 5. O Characterized by new born babies cry sound like a cat.

3 Symptons O Mental retardation. O Small head size. O Low weight. O Distinctive facial features. O Language problems. O Walking problems. O Scoliosis. O Weak muscles. O Difficulty to eat. O Single line in the palm of hands. O Abnormal ears.

4 Inheritance O Is not inherited and is a recessive trait. O Most of the kids that suffer this syndrome have no history of their family members with this disorder. O About 10% of the patients inherited the chromosome with a deleted part from a parent. O Occurs randomly during the process of meiosis.

5 Treatments O There is no a real or specific treatment. O Patients with this syndrome receive therapy. Therapies Occupational therapy: Basic skills. Behavioral therapy: Socializing skills and behaviour. Speech-language therapy: Language and communication skills.

6 Facts O The geneticist Jerome Lejeune recognized Cri-du-Chat syndrome in 1963. O "In 80 percent of the cases, the chromosome carrying the deletion comes from the father's sperm rather than the mother's egg” (University of Utah, 2015). O This disorder affects an estimated of 1 in 20,000 to 1 in 50,000 newborns. O The awareness week of Cri du chat is in May 3-9. O Patients with this genetic disease have only one line on their hands. O https://www.youtube.com/watch?v=TYQrzFABQHQ https://www.youtube.com/watch?v=TYQrzFABQHQ

7 Bibliography O Genetics Home Reference. (2015, March 2). Retrieved from http://ghr.nlm.nih.gov/condition/cri- du-chat-syndrome O Huw, T. (2014, December 19). Patient. Retrieved from http://www.patient.co.uk/doctor/cri-du- chat-syndrome-pro O I am pregnant. (2013). Retrieved from http://www.i-am-pregnant.com/Birth/Birth-defects/Cri- du-Chat-Syndrome O International Cri-du-Chat. (2013). Retrieved from criduchat.org O The Cri-du-chat syndrome. (n.d.). Retrieved from http://cri-du-chat- info.blogspot.com/p/treatment.html O University of Utah. (2015). Genetic Science Learning Center. Retrieved from http://learn.genetics.utah.edu/content/disorders/chromosomal/cdc/ O Picture links: http://geneticdisordersproject.wikispaces.com/Cri-du-Chat+Syndrome http://www.i-am-pregnant.com/Birth/Birth-defects/Cri-du-Chat-Syndrome http://cri-du-chat-info.blogspot.com/p/treatment.html http://genetics4medics.com/cri-du-chat-syndrome.html http://bio.classes.ucsc.edu/bio105/winter%2008/Bio105_W08/Lectures/Lecture2/Lecture2.html


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