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Cry Of The Cat: A Look Into Cri Du Chat
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“Cat cry” or “call of the cat” is the literal translation of the genetic disorder known as Cri du Chat Syndrome. This disorder is a result of the deletion of a part of chromosome 5 in humans, one of the largest chromosomes in humans. Described in 1963, this rare genetic condition was detailed by Jerome Lejeune (the same French pediatrician who described Down Syndrome, another chromosomal abnormality). Diagnosis is often made during infancy, because of distinct characteristics. Delayed development in children affected has shown improvement when raised in a normal family setting.

This rare condition can be diagnosed as early as birth. However, the most distinct characteristic comes from its French name—cat cry. Infants and babies affected with this syndrome have a cat-like cry that usually, however, becomes less pronounced as the child matures. This is a result of a problem with the affected child’s larynx, as well as nervous system.

Other symptoms and signs associated with Cri du Chat include low birth weight, weak muscle tone, small head size, and widely-spaced eyes. Facial features of children with Cri du Chat are distinctive, but may change over time.

Diagnosis of the syndrome can include something as simple as observation. A baby’s cry can diagnose the infant with Cri du Chat. Moreover, analysis of chromosomes can also serve as the means for diagnosis. Analyzing the infant’s chromosomes—more specifically chromosome 5—can be means for diagnosis. A deletion on the short arm of chromosome 5 can usually be detected with this type of analysis. However, if not, a more detailed test called FISH can also detect the deletion. Majority of the cases of Cri du Chat occur from a random deletion, one that is not inherited from either parent (a de novo mutation).

Children with the syndrome are usually expected to have delay in cognitive function, motor skills, and speech. It is not uncommon for children with the disorder to start walking on their own barely at the age of five, using crawling or rolling as a means to move. Previously, it was also common for affected children to be placed in the same institutions as other mentally retarded persons, to be treated. However, recent ongoing research suggests that raising a child affected in a normal family setting will improve the child’s progression. Children with Cri du Chat syndrome have learned to use short sentences to communicate, while others use sign language or simple gestures.


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