By: Haley Franklin, Biology 1, 1-22-2015
Discovery |
Benefits?? |
In 1963, a geneticist by the name of Jerome Lejeune identified the chromosomal mutation. Lejeune also identified Down Syndrome. Lejeune is a French man, which hints to why the name of the disorder is named in French. The translation (which means cry of the cat) is because of one of the most prominent effects of the disorder, which is a cat-like wail that usually comes from the patient when it is an infant.
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Although Cri du Chat is a disorder that can't be completely cured, a possible benefit of this disorder is the fact that it is easily identified which makes it easier for the doctors and the patient for the prognosis and plan for treatment of the patient. Another benefit is that although the patient will be challenged with things to overcome, it is not a life threatening disorder (unless they are unhealthy for other, unrelated reasons)
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Other Facts
- In about 80% of the instances of Cri du Chat, the chromosome that carried the deletion is actually from the dad.
- Some people with Cri du Chat get gray hair earlier than most people
- Cri du Chat may also be referred to as 5P Minus Syndrome
- Another effect of Cri du Chat may be abnormal creasing in the hands (shown in picture on this page)