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Cri du chat

Cri du chat Causes

The deletion of a portion in band 5p15.2, the Cri du chat critical region, is associated with all the features of the disease excluding the catlike cry. This is correlated to band 5p15.3. In most cases (80 percent), Cri du chat is caused by sporadic de novo deletion, while the remaining numbers is believed to arise from the uneven segregation of the parental balanced translocation.

Cri du chat Definition

Cri du chat syndrome is a genetic abnormality caused by the partial deletion of the chromosome number 5. Its name is French for cry or call of the cat in reference to the meowing sound the infant makes when crying, a manifestation of the infant's larynx and nervous system problems.

Cri du chat Diagnosis

To confirm the existence of the disease, the infant needs to undergo genetic testing. Fluorescent in situ hybridization (FISH) can diagnose patients with very small deletions in their chromosome 5.

Cri du chat Symptoms and Signs

Infants with Cri du chat suffer from behavioral and physiological problems, including problems with swallowing, poor growth, less than the average weight, delays in the development of motor and speech abilities, tantrums, hyperactivity, unusual facial features, and aggression. These signs are observed among children and adolescents: mental retardation, deep-set eyes, scoliosis, facial features coarsening and severe malocclusion.

Cri du chat Treatment

There is no treatment that addresses Cri du chat, however, addressing metal retardation should be the parents primary concern.

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