Cri Du Chat Research Paper

Cri du Chat Syndrome is a generally non-fatal, rare genetic disorder that was discovered in 1963. The name, “Cri du Chat” is French “cry of the cat”, referring to the high-pitched cries of affected infants. Lejeune, the French geneticist who discovered Cri du Chat Syndrome , also discovered Down Syndrome. Cri du Chat Syndrome goes by many different names including: 5p deletion syndrome, 5p- syndrome, cat cry syndrome, chromosome 5p- syndrome, and monosomy 5p. Deletion of part of a chromosome causes Cri du Chat Syndrome. An affected person does not have a portion of the short end of the fifth chromosome, also know as the 5p- chromosome section. The larger the section of the chromosome that is missing, that is to say the more important deleted genes, the more severe the physical and mental symptoms. Specifically the loss of the gene CTNND2 causes serious intellectual disabilities for many people with Cri du Chat. Symptoms of Cri du Chat normally are not fatal, however they are pretty disabling.
The symptoms also vary a lot between individuals with Cri du Chat since the amount of missing genes can greatly vary from
Most people affected do not have families with long histories of Cri du Chat. Additionally, the syndrome occurs within people of every different ethnicity. The deletion of the 5p- chromosome usually happens randomly during meiosis or in early embryonic development. In the case of an error during meiosis, failed translocation between nonhomologous chromosomes can cause the deletion of the 5p- chromosome section. On average, Cri du Chat Syndrome appears in 1 out of between 20,000 and 50,000 children. Fortunately, many with Cri du Chat can maintain high quality of life dependent on family or medical professionals. Physical therapy, speech therapy, behavioral training, and special education can help people with the condition to live full, meaningful, and average length