Presentation on theme: "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."— Presentation transcript:
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 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 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.