Cri-du-chat

Nayab and Emmy

Discovery

Jerome Lejeune discovered the cir-du-chat syndrome in 1963. He also discovered the genetic abnormality that causes Down Syndrome. Cri-du-chat is one of the most recent genetic diseases caused by chromosomes deletion. Children born with cri-du-chat are usually small in size after birth. They have cat like shaped eyes. They have distinctive features such as small heads, a small chin, unusually round face, a small bridge nose, and folds of skin over their eyes.

Effects on Body System

Cri-du-chat has effects on many body system. It effects the respiratory because the larynx does not develop as it should. It effects the skeletal system because the skull is not fully developed. There are poor heart defects which is apart of the circulatory system. Poor muscle tones are apart of the muscular system. The syndrome does not experience defects with the major organs or other critical medical conditions.

Receiving the Disorder

The cir-du-chat is received mostly by the deletion of chromosomes from their father's sperm rather than their mothers egg. These deletions occur when the formation of the egg or sperm is happening.The deletions are caused by a break in the person's DNA molecule. It is caused by the an unequal recombination during meiosis. The parent themselves do not have any break in their cells however and do not have the syndrome. This is why it is not due to heredity. It is not sex linked but is a mutation due to the deletion of chromosomes on the DNA.

Treatments

They have not created a form of treatment for the cir-du-chat syndrome. They however could receive therapy to improve their language skills. There is no way to prevent the syndrome right now. If you have a history for the syndrome you can receive genetic counseling.