written by: R. Elizabeth C. Kitchen•edited by: Leigh A. Zaykoski•updated: 2/28/2010
Who discovered Cri du Chat syndrome? This question and other important questions concerning this disease will be answered here.
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Cri du Chat syndrome occurs when chromosome 5's short arm is deleted. Because of this deletion, multiple genes are missing and each missing gene is thought to contribute to this disorders symptoms. This disorder is rare and affects between every one in 20,000 and one in 50,000 babies. The geneticist Jerome Lejeune is who discovered Cri du Chat syndrome in 1963.
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How Do People Get this Disorder?
Parents who have this disorder can sometimes pass down a broken chromosome to their child, resulting in the child inheriting the disease. When the DNA molecule making up a chromosome is broken, deletion occurs. The chromosome breaks when the egg cell or sperm (the female or male gamete) are developing, in most cases.
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Symptoms of this Disorder
Babies born with this disorder may have respiratory problems and are typically small at birth. They often have an underdeveloped larynx resulting in the characteristic cat-like cry. Patients also have very distinctive features. These include an unusually round face, widely set eyes, small bridge of the nose, a small head, a small chin, and folds of skin over the eyes.
Other symptoms include heart defects, sight or hearing problems, skeletal or muscular problems, or poor muscle tone. They tend to have problems talking and walking correctly. Severe mental retardation and behavior problems, such as aggression and hyperactivity can occur. However, even with all of these problems, patients have a normal life expectancy.
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Diagnosing this Disorder
The cat-like cry is often what leads to this condition being diagnosed. Other signs include poor muscle tone, a small head, and mental retardation. Other things doctors look for is inguinal hernia, epicanthal folds, separated abdominal muscles, and abnormally or incompletely folded external ears.
While the baby is still within the womb, this condition can be tested for. This can be done through amniocentesis or chorionic villus sampling.
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Treating this Disorder
There is no real treatment for this disorder. However, certain things can be done to help patients develop as normally as possible. These include different types of therapy, such as therapy for motor skills, therapy for language skills, and physical therapy.
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Mental retardation is typical. The cat-like cry tends to become far less noticeable as times passes. Half of all children with this disorder will be able to communicate by learning sufficient verbal skills.
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Who discovered Cri du Chat syndrome is also who discovered the genetic abnormality that is responsible for causing Downs syndrome. Downs syndrome presents with similar symptoms, such as mental retardation.
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University of Utah Genetic Science Learning Center. (2010). Cri du Chat Syndrome. Retrieved on February 28, 2010 from the University of Utah Genetic Science Learning Center: http://learn.genetics.utah.edu/content/disorders/whataregd/cdc/
Medline Plus Medical Encyclopedia. (2010). Cri du Chat Syndrome. Retrieved on February 28, 2010 from Medline Plus Medical Encyclopedia: http://www.nlm.nih.gov/medlineplus/ency/article/001593.htm