Tuesday, December 13, 2011

CRI-DU-CHAT SYNDROME- OJ


Cri du chat syndrome, also known as chromosome 5p deletion syndrome, Lejeune’s syndrome is a Genetic DISORDER.It is called cri du chat because at birth newborns cry sounds like a cats cry. it is caused from formation of egg or sperm by unequal recombination during meiosis. The Genetic Disorder was first identified in 1963 by Geneticist Jerome Lejeune(who also discovered down syndrome). Cri du chat is caused by Deletion of the top part of Chromosome 5 (shown BELOW)


Many genes are missing from the deletion and some may contribute to to the symptoms of the disorders. the life expectancy is normal.Here are the Symptoms

  • small at birth
  • respiratory problems
  • Larynx doesn't develop properly which cause the cat like cry 
  • have a small head 
  • wide eyes small bridge of the nose 
  • Have trouble walking and talking 
  • Poor muscle tone, skeletal problems, hearing and sight problems 
  • Severe Mental Retardation 
  • Behavior problems
the disorder is identified byt infants cry like a cat, Microcephaly, Poor muscle tone,  mental retardation, test  in the mothers womb. There are no treatment for Cri du chat  but they can go to therapy to improve language skills and develop normally as possible.

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