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Cri Du Chat
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1.
CRI DU CHAT
5P DELETION, 5P MINUS, CAT CRY SYNDROME, & LEJEUNE SYNDROME
2.
GROUP MEMBERS
Carson Schneekloth
Ella Mulder
Trinity Schutz
Claire Kolander
3.
CAUSES OF CRI DU CHAT SYNDROME
Chromosome deletion
Deletion is in the p arm: (short part of the chromosome) (all human chromosomes have 2 arms short (p) long (q)
Usually effects females more than males
4.
DIAGNOSES
It can be diagnosed at birth
If they don't see chromosome 5 on the chromosome analysis there is a genetic test called FISH it may be able to see the deletion on the analysis
FISH (fluorescence in situ hybridization)
5.
SYMPTOMS
Developmental delays
High pitched cat like cry
Mental retardation
Distinctive facial features
Smaller head
Widely spaced eyes
6.
DAILY DIFFICULTIES
Speaking tends to be harder
Eating (they need help feeding themselves)
Getting dressed
Photo by
Marc Wathieu
7.
THERAPIES
Speech therapy
Physical therapy to improve muscle tone
Occupational therapy to teach strategies and new skills in life
Photo by
roger_mommaerts
8.
EXTRA INFORMATION
There have a normal life expectancy
They live happy fulfilled lifes
They sometimes use other communication alternatives (sign language)
9.
They are doing further research to find a treatment on this syndrome.
10.
REFERENCES
https://www.genome.gov/19517558/learning-about-cri-du-chat/
Www.medicinenet.com/script/main/art.asp?articlekey=4715
Https://ghr.nlm.nih.gov/condition/cri-du-chaf-syndrome
Https://en.m.wikipedia.org/wiki/Cri_du_chat
Https://raediseases.org/rare-diseases/cri-do-chat-syndrome/
Www.healthline.com/health/cri-du-chat-syndrome
11.
Untitled Slide
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Untitled Slide
13.
THE END
Ella Mulder
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