1 / 8

Cri du Chat

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

zoe
Download Presentation

Cri du Chat

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Cri du Chat LynelleDequina Aashini Patel

  2. 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

  3. 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

  4. 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

  5. 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.

  6. 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.

  7. 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.

  8. 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

More Related