Presentation on theme: "Lynelle Dequina Aashini Patel"— Presentation transcript:
1 Lynelle Dequina Aashini Patel Cri du ChatLynelle DequinaAashini Patel
2 How You Get this Disease Caused by the deletion of a segment of chromosome 5; has missing piece on chromosome 5causes more deletions of other genescauses many of the symptoms related to this disorderThe chromosomes break while the sperm/egg is developingThe disease develops during fertilization
3 Genetics Continued Also called the 5p minus syndrome Missing part of the “short arm” on chromosome 5The size of the missing piece variesThe larger the segment lost: the more severe the symptomsUsually this disease is NOT inheritedMutation occur during fertilizationRare cases when parent gives a mutated chromosome to the offspringThis leads to the deletion later
4 Symptoms Cry that sounds like a cat Mental retardation High pitchedBecause of the fact of the underdeveloped larynxSlow developmentLight weighted infantRespiratory issuesMental retardationSmall head (distinct facial features)Far apart eyesEars are positioned lowerLittle jawRound faceHeart defectsDifficulty walking/speakingHearing/seeing problems
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 HistoryThe 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 ChatChildren 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.