Presentation is loading. Please wait.

Presentation is loading. Please wait.

By: B-smooth.  Chromosomal condition that results when a piece of chromosome 5 is missing.  It is a deletion disorder.

Similar presentations


Presentation on theme: "By: B-smooth.  Chromosomal condition that results when a piece of chromosome 5 is missing.  It is a deletion disorder."— Presentation transcript:

1 By: B-smooth

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

3

4  cognitive defect, delayed development and difficulty speaking  long face, macrostomia, and scoliosis are also other effects

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

6  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.

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

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

9  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

10

11  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 “crazy- man 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

12  http://ghr.nlm.nih.gov/condition/cri-du-chat- syndrome  http://www.genome.gov/19517558  http://learn.genetics.utah.edu/content/disord ers/whataregd/cdc/images/cri-du- chat_diagram.gif  http://www.criduchat.asn.au/criduchat/joel. htm


Download ppt "By: B-smooth.  Chromosomal condition that results when a piece of chromosome 5 is missing.  It is a deletion disorder."

Similar presentations


Ads by Google