Cri Du Chat Syndrome
By: Brandon Bartkowiak
Overview
This syndrome is when a piece of the 5th chromosome (out of the 23 pairs) is missing or suffered from deletion causing unusual features of the person and mental condition. This syndrome is known mostly by infants making a cat-like cry.
Inheritance
You can NOT inherit this syndrome and usually people who have this do not have history of others in their family having this syndrome. Deletion will delete a part of chromosome 5 of 23 that will cause this disorder.
Research and Studies
Estimations conclude that 1 of every 50 thousand births result in Cri Du Chat syndrome. 5p minus Society also concludes an approximation of 50 to 60 infants are born with this syndrome in the US every year. This syndrome can affect both male and female and can occur in any race/ethnicity.
Signs and Symptoms
People with this disorder usually have physically abnormalities, abnormal larynx giving an infant with this syndrome a cat like cry but disperses as they get older. During infancy a child does not grow at a normal rate nor gain weight normally. Some infants with this have congenital heart defect. Many have hypotonia which is a poor or weak tone in muscle. Last of all mental retardation is also present in anyone who has this syndrome but varies from patient to patient.
Treatment
As of now no cures have been discovered/made to get rid of this syndrome but some treatments include therapy through developmental stages and supportive care.
History
Jerome Lejuene, a French geneticist, had discovered a similar characteristic in his patients in 1963. Having a distinct cat-like cry he named it Cri Du Chat which is french for "cry of the cat".
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