Cri Du Chat Analysis

Cri du Chat syndrome is a rare genetic disorder that is caused by deletion of the small arm in chromosome 5. This is an example of unbalanced translocation, which is involved in the development of birth defects and or health problems. As of today, there is no known cause for this case of unbalanced translocation. Typically, there is no evidence of the condition within family lineage. Therefore, Cri du chat is not an inherited disorder. The deletion of this chromosome arm occurs in a sporadic event during the early development of the fetus and entails a cat like cry at birth. With only 1 in 20,000 to 50,000 newborns affected by Cri Du Chat syndrome, it is obviously a highly rare condition. As a result, there is little to no cure research …show more content…
The affected infant will have a cat-like cry, being the main apparent symptom. If Cri Du Chat syndrome is suspected, an analysis of the chromosomes will be performed. The deletion of the short arm of chromosome five is the requirement for a positive Cri Du Chat syndrome diagnosis. Using the FISH analysis may be needed for further validation (Learning). FISH analysis translates to fluorescence in situ hybridization and is “used to visualize where a particular gene or DNA sequence is located within a person’s genome.”(Genetics Education) Also, Karyotype, a simple chromosome analysis, can be used to map out one’s chromosomes and make missing or added chromosomes apparent. Lastly, chromosome microarray analysis is the newest modern form of diagnosis which helps to analyze DNA by collecting and analyzing the affected individual's DNA and placing it on a glass slide, then comparing it to a control DNA which then makes mutations apparent. Furthermore, life expectancy can not be determined for those with Cri Du Chat syndrome. Many people affected by Cri Du Chat syndrome are able to lead happy, successful, and fulfilling lives