Cri du chat

Cri du chat is when a part of chromosome 5 is absent.

Facts about cri du chat

This disorder affects females more often than males. In one study, only 50% of children with cri du chat were able to feed themselves with a spoon by 3.5 years of age. Most kids are enrolled in therapy before 1 year of age. Several children have lived to be over 50. Cri du chat means cry of the cat in French.

Symptoms

The symptoms are mental retardation, delayed development, distinctive facial features, abnormally round or plump face, small head size, widely spaced eyes, broad nasal bridge, low set ears, abnormally small jaw, slow growth, low birth weight and weak muscle tone in infancy. Another symptom is improper alignment of the upper and lower teeth. Speech development is delayed. Heart defects, muscular or skeletal problems, hearing or sight problems occur. The cry that they have resembles the mewing of a cat. Most people with this disorder have difficulty with language.

Can cri du chat be inherited?

No cri du chat can not be inherited. The deletion is random and affected people usually don't have any history with this disorder in their family. About 10 percent of people with cri du chat inherit the chromosome from an unaffected parent. People with cri du chat who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 5.

Can you prevent this disorder?

No, there is no way you can prevent this disorder. There is no treatment available to help people with cri du chat. People with cri du chat can go to therapy to improve their language skills, motor skills, and also help them to develop normally. Genetic counselors help people with cri du chat and help their parents understand the risks. Some doctors may want the child's parents to be tested to see if their has been a change in chromosome 5.
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What diagnostic tests are preformed to determine if someone has this disorder?

X-rays are preformed to determine if someone has this disorder. If there is a cat like cry when the baby is born then they most likely will have cri du chat. Analysis of the individual's chromosomes are tested. The missing part of chromosome 5 might be seen on a chromosome analysis. If you are unable to see chromosome 5 missing on a chromosome analysis then you can look at a more detailed type of genetic test called FISH analysis. That may be needed to reveal the deletion.
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