Cri Du Chat Research Paper

896 Words 4 Pages
Cri Du Chat Syndrome
Section 1 The genetic disorder Cri Du Chat stems from the deletion of a portion the p arm of chromosome 5 in the affected person. This deletion is seemingly spontaneous in most affected individuals. “Approximately 90% of cases results from a sporadic, or randomly-occurring, de novo deletion” (6. pg. 606). This deletion may include a fraction to the entire loss of the p arm of the fifth chromosome as a whole. Taking into consideration the very spontaneous nature of this disorder, at this time the disease is not considered to be entirely hereditary, although the disease can indeed be inherited from an affected or unaffected parent. Inheritance of the disease can be shown to occur in anywhere from 10 percent to
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Section 2 The genetic disease Cri du Chat acquires its name from the French phrase “cry of the cat” due to the sound of the cries of affected infants resembling that of the high pitched mewing of a cat. The genetic disease was discovered in 1963 by Dr. Lejeune and is also referred as Lejeune’s disease or Cat Cry syndrome. Cri Du Chat affects anywhere from 1 in 20,000 to 1 in 50,000 newborns, mostly affecting females but across all ethnicities. Due to the origin of the disease, a lack in the complete development of the p arm of chromosome 5, symptoms are quite wide in variety but this does not necessarily render difficulty in diagnosis. The most notable symptom, predictably, is the noteworthy, high pitched cry displayed in the affected infants which usually disappears around the age of 2 years. This symptom is the most common and is caused by a lack of development in the larynx and in the nervous system. Certainly disconcerting, but definitely not the most dangerous. From the 2010 Journal of Pharmaceutical and Chemical Research, other, more critical symptoms include microcephaly (small head), severe mental retardation, early feeding …show more content…
While this is by no means unacceptable, the fact that modern science is almost wholly ignorant of any likely cause is rather surprising. Cri Du Chat is a very serious condition and it could only benefit the medical community as a whole to pour more funding into not only the pockets of research facilities dedicated to that specific genetic disorder (if any exist), but all researchers tasked with the uncovering of the secret behind the seemingly random coding that make up the building blocks of life. Conversely, Cri Du Chat affects around .00002 percent of all people. This is by many respects a negligible minority and it may very well be much more beneficial to provide primary consideration to much more prominent threats to a population’s health. Like perhaps that undulating, amorphous mass of mutatious disaster collectively referred to as

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