Cri Du Chat syndrome

Jalyn Barron

Gid - Cri Du Chat

Cri Du Chat syndrome, or 5p- is a chromosomal genetic disorder where someone is missing the 5th chromosome. The 5th chromosome is for making proteins throughout the body. Some symptoms of the disorder are a high pitched cry that sounds like a cat, intellectual disability and slowed development, small head, low body weight, and week muscle tone at infancy.

Risks

The risk of getting 5p- is about 1 out of 20,000 to 50,000 and is found within all ethic backgrounds. With the averge amount of babies being born each year is 130,000,000. So that means that 2,600 to 6,500 babies are born with this each year.


"Cri-du-chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions." According to Genetics Home Reference. This means that a mutation happens when the baby is developing.


Genetics Home Reference also say "Most cases of cri-du-chat syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family.



About 10 percent of people with cri-du-chat syndrome inherit the chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with cri-du-chat syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 5, which results in the intellectual disability and health problems characteristic of this disorder." This means that the disorder is not caused by a certain thing that happens every single time. That’s probably why the amount of babies born with it each year is so small. This disorder is random.

Treatment

The way you diagnose 5p- is by looking for the symptoms like low muscle tone and and high pitch cry. There is no one specific treatment. Parents should have genetic counseling and test done to see if there missing the chromosome.