CRIDUCHAT SYNDROME CRY OF THE CAT SYNDROME By

CRI-DU-CHAT SYNDROME (CRY OF THE CAT SYNDROME) By: B-smooth

Genetic disorder � � Chromosomal condition that results when a piece of chromosome 5 is missing. It is a deletion disorder.

Chromosome graph

Symptoms/effects � � cognitive defect, delayed development and difficulty speaking long face, macrostomia, and scoliosis are also other effects

Diagnosis � One of the most characteristic features in newborn children is a high-pitched cat-like cry that is usually considered diagnostic for the syndrome

Prognosis � What can be expected varies, but mental retardation is usual. Half of children with Cri du chat syndrome learn sufficient verbal skills to communicate. The cat-like cry becomes less apparent over time.

Treatment � No specific treatment is available for this syndrome. The mental retardation must be addressed, and counseling is recommended for the parents.

Current research � Currently, there are no trials specifically investigating cri du chat syndrome. However, there is one study enrolling individuals with chromosomal abnormalities.

Genetic counseling � Parents of a child with this syndrome should have genetic counseling and a karyotype test to determine if one parent has a rearrangement of chromosome 5

Graphic

Great storey � � Joel is a happy and loving little boy who loves people, and loves to be the centre of everyone’s attention. He loves to laugh and make us laugh – with things like his “monkey face” and his “crazyman dance”. He loves our dogs, going swimming, balls, balloons, ice cream, and the Teletubbies. He hates the feel of grass. He rarely complains about anything, and just has a beautiful nature. He’s such a good little boy, and is adored by everyone who has the pleasure of knowing him. http: //www. criduchat. asn. au/criduchat/joel. htm

credits � � http: //ghr. nlm. nih. gov/condition/cri-du-chatsyndrome http: //www. genome. gov/19517558 http: //learn. genetics. utah. edu/content/disorders /whataregd/cdc/images/cri-du-chat_diagram. gif http: //www. criduchat. asn. au/criduchat/joel. htm