Cri Du Chat Syndrome Description

In 1963, Lejeune et al. We introduced Cri du Chat (CCS), a rare genetic syndrome caused by short extension or complete absence of chromosome 5p (5p15.1-5 p15.3). This chromosomal deletion is caused by "de novo" mutations (parents have normal karyotype) and results in brain developmental changes leading to microbrain development and delayed psychomotor development (Mainardi, 2007). CCS is rare, but it is one of the most common chromosomal deletion syndromes (ie incidence is 1: 15,000 to 1: 50,000 births), women are slightly affected, but ethnic groups and It is not very different from the geographical area. Differences (Rodriguez - Cabalerro, 2010).

Cri-du-chat syndrome is a very rare disease. Genetologist Jerome Lejeune first discovered the disease in 1963 and furthermore he found genetic abnormalities leading to Down's syndrome. Cri-du-chat syndrome is the result of genetic deletion on the chromosome. It is believed that this disease is the result of a wrong mechanism in the development of eggs and sperm. Surprisingly, in the case of 80%, the missing chromosome is not from the mother's egg but from the father's sperm.

5p syndrome is a chromosomal deficiency that results in extensive intellectual and developmental abilities. Every year in the United States about 50 to 60 children are born in 5p syndrome, also known as Cri du Chat syndrome. These people may need support for life. Our society is dedicated to communicating the recognition of syndrome and providing valuable information, education and support to families, educators and medical professionals to maximize the quality of life of patients with 5p syndrome It is a support organization. . Please join us

Cri-du-chat syndrome is caused by deletion of the short (p) arm end of chromosome 5. Changes in this chromosome are written as 5p-. The size of the deletion depends on the affected individual; the study showed that larger deletions often result in more severe mental retardation and developmental delay than those with small ones. The symptoms and signs of sleep syndrome in children may be related to the loss of multiple genes on the short arm of chromosome 5. Researchers believe that the loss of certain genes CTNND 2 is associated with some people 's severe psychiatric disorder. This is a fact. They are working to determine how the loss of other genes in this area contributes to the characteristics of the disease.