Cry+of+the+Cat+Syndrom+(cri-du-chat)

Cri-Du-Chat Syndrome (Cry of the Cat)

By RS and LK Cri - du - chat is French for //Cry of the Cat.// It is caused by the deletion of part of chromosome 5. It is named this way for the sound affected infants give. Cri-du-chat is also known as 5p deletion syndromea. **Inheritance:** **Symptoms:**  ** Prognosis: ** ** Treatment: **
 * 90% of cases caused by mutation
 * 10% inherited from a parent
 * Infants with this disorder give a cry which sounds like the meow of a cat
 * Experience mental retardation, as well as severe developmental issues
 * Causes many different deformations of the face, including small heads, round faces, wide spread eyes, and inner eye folds
 * Can cause early death in childhood
 * The amount of chromosome deleted determines how bad the symptoms are
 * Has a 10% mortality rate in infants
 * Mortality rate is caused by congenital heart defects, hypotonia, difficulties while eating
 * Most early symptoms can be controlled
 * Therapy is used to minimize symptoms, so some people are able to live with minimal effects
 * Diagnosis: **
 * Patients are usually diagnosed by their symptoms while they are still infants, especially their cry
 * Physical examinations can also be used to identify this disorder
 * Genetic screening can also be used
 * In addition, FISH analysis can also be used
 * There is no current treatment discovered for Cri-du-chat.
 * However, there is therapy available

** Other Facts: **
 * Discovered in France during 1963 by Jerome Lejeune
 * Caused by the loss of the short arm of the 5 chromosomes
 * Occurs in approximately 1 in 20,000 to 1 in 50,000 births
 * Frequency of patients with retardation is 1 in 100
 * 80% of mutations are in sperm


 * Bibliography: **
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** Pictures: **
 * Chromosome 5**

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[] [|www.**cri**dchat.u-net.com/] Comments

1. Your informantion is really interesting. Godd job. - sst