Genetic Disease: Cri du Chat

The genetic disease Cri du Chat is a disease that effects one in every twenty thousand to fifty thousand infants. This was discovered in the year 1963. Almost all people that can be vulnerable to this disease are newborn infants even if there was never any family history of the illness. At the molecular level, the cause of this disease is a piece of chromosome number five is missing or multiple genes from the chromosome have been deleted. The chromosome number five has a specific gene named T.E.R.T (telomerase reverse transcriptase).This is one of the genes that can be deleted, the gene T.E.R.T. is in control of cell growth which is vital at their young age. There are many symptoms due to this disease including:

- cry that is high pitched like a cat
- downward slant to eyes
- low birth weight and slow growth
- low set or abnormally shaped ears
- mental retardation
- partial webbing or fusing of fingers or toes
- skin tags in front of ears
- slow or incomplete development of motor skills
- small head
- small jaw

Although this disease is horrible, there is no deaths from this disease. Two major complications in the long run is that the person with Cri du Chat may not be able to care for theirselves and the inability to care for themselves. Right now there are no known treatments of cures, but genetic counseling is recommended. A few alternate names for this illness is 5p deletion syndrome, 5p minus syndrome, and cat cry syndrome. This disease also accounts for 1% of the individuals with severe mental retardation. Some cases can result from one parent carrying a rearrangement of chromosome 5 called a translocation. Diagnosis of Cri du Chat is made in the hospital at birth. Information obtained from www.nlm.nih.gov/.