Friday, August 4, 2023

Down Syndrome and Genetics

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Down syndrome is a genetic disorder that can be characterized by distinct physical traits and cognitive disability. The mapping for the phenotypes is specific to chromosome 21. There are three cytogenetic forms of down syndrome which include, free trisomy 21, mosaic trisomy 21, and robertsonian translocation trisomy 21. Half of the patients with Down Syndrome do have congenital heart disease. Congenital heart disease could be presented at birth and can affect the structure of the baby's heart. In the picture shown above, it shows that there is an extra chromosome in chromosome 21. It is know that the first report of down syndrome was in 1894 and the correlation between the atrioventricular septal defects and down syndrome was suggested 25 years later. 

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