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Cri du ChatLynelle 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 ContinuedAlso 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 inheritedMutation occur during fertilization
Rare cases when parent gives a mutated chromosome to the offspring This leads to the deletion later
SymptomsMental retardation Small head (distinct
facial features)Far apart eyesEars are positioned
lowerLittle jawRound face
Heart defectsDifficulty
walking/speakingHearing/seeing problems
Cry that sounds like a catHigh pitchedBecause of the fact of
the underdeveloped larynx
Slow developmentLight weighted infantRespiratory issues
Treatment & PreventionThough 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 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.
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 Citedhttp://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