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