Cri-du-Chat

In 1963, Jerome Lejeune discovered Cri-du-Chat syndrome. This genetic disease affects between 1 in 20,000 and 1 in 50,000 babies. Cri-du-Chat is only diagnosed in infants, because the cause of this disease is the missing piece of Chromosome #5. Chromosome #5 is usually missing in the male sex cell when fertilization occurs. Children born with Cri-du-Chat have physical properties such as a cry that is high-pitched and sounds like a cat, a downward slant to the eyes, partial webbing or fusing of the fingers, wide set eyes, micrognathia, microcephaly, and a low birthweight, and abnormaly shaped ears. However, the mental effects of Cri-du-Chat are mental retardation, which results in an inabilty to care for themself and an inablity to function in society. There is no treatment for this genetic disease. However, the child born with Cri-du-Chat may need certain counseling and support from their family and various therapists. This disease is also very rare. For instance, if one child is born with Cri-du-Chat, there is a very, very low chance of Chromosome #5 to be missing again in another fertilization process. In eighty percent of the missing chromosome is from the male sex cell. Sadly, children diagnosed with Cri-du-Chat do not survive into adulthood. I believe that perhaps if society had acceptance for children with Cri-du-Chat and their appearance or mental stability, then it would be much easier for them to function in society. To think that it was only a missing chromosome that cause this genetic disease, is quite frustrating.

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