Cri Du Chat

Cri Du Chat syndrome is a rare chromosomal abnormality that affects an arm of chromosome number five. Other well-known names of the syndrome include; 5p minus, 5p monosomy, and Lejeune’s Syndrome. The words Cri Du Chat translate in French to “cry of the cat,” this is referring to the distinct cry of children burdened by this disorder. When the deletion of the short arm on chromosome 5 occurs, multiple genes are also deleted. This deletion of genes can vary depending on how much of chromosome 5’s arm was cut off. This disorder appears in approximately one in every 50,000 live births. It affects all ethnicities equally, and is more common in females than in males, at a 4:3 ratio. I chose this particular topic because I had been introduced to it in my AP Biology course in high school. I did not get to learn about it in depth, so when I saw it on the option list it immediately caught my eye. Approximately 95% of newborns with Cri Du Chat syndrome have a weak, high-pitched, monotone cry. This cry is caused by an abnormally small and diamond shaped larynx and short vocal cords. Although this cry is so prominent at birth, one third of children whom exhibit it, out grow it by age two. Even though the cry slowly goes away, the children will remain to speak with high-pitched voices. Children with the disorder tend to have low birth weights. They also tend to develop and grow a lot slower compared to their peers. These children are often characterized as small in stature and fine-limbered. Many of the individuals with Cri Du Chat have a very distinct phenotype. These features include a small head with a rounded face and small chin. The eyes of these people are often wide-set and slanted downward. Eyes may also have skin folds that cover the inner corners called epicanthal holds. Strabismus, which is the appearance of squinting, is also evident in about 50% of these children. Another common feature is a low nasal bridge. About 80 percent of those affected also have a

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