Looking up on Down Syndrome. Trying to find the cause behind genetic anomalies

Dr. Sara Frías Vázquez of UNAM’s Biomedical Research Institute studies the causes behind the birth of children with Down syndrome. According to her research, more than 60% of kids that are diagnosed with the syndrome have mothers younger than 40 years old. Even though the risk of conceiving a child with Down syndrome is greater in women that have surpassed their reproductive age, there is a greater number of young mothers because they reproduce more.

Down syndrome is the result of an extra copy of the 21st chromosome, that is, one of the structures that carry the genetic information of each indi

vidual. This disruption is characterized by particular physical traits and a variable degree of developmental delay. The syndrome is named after John Langdon Haydon Down, who discovered the condition in 1866 without knowing what was causing it. In 1958, the French scientist Jerome Lejeune found that the syndrome was a result of a genetic alteration of the 21st chromosome.

For Dr. Frías Vázquez it is interesting to note that more than 90% of the babies with genetic disorders do not survive, but there are children that are born with the syndrome despite the high mortality rate. For the researcher and her team, the key to explaining what causes the syndrome lies in finding the genetic differences that prevent the natural abortion of children with genetic imbalances.

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