Wednesday, March 25, 2015

Shattered Chromosomes May Be Cause of Birth Defects

A study done by the University Medical Center Utrecht in the Netherlands observed three different families whose children suffered from abnormalities due to chromothripsis or a shattered chromosome. According to the senior author of the project, Wigard Kloosterman, this does not necessarily cause lead to a disease to occur. Although the presence of a shattered chromosome impacts reproduction through difficulties such as not getting pregnant, miscarriage, or the birth of children who have multiple birth defects. The children who were studied have abnormalities that were passed down from the mother. Even though the mothers were affected, they had genomes which had more chromosome breakage than their children. Dr. Kloosterman found that only two children had inherited a small set of the damaged chromosomes from the mother. In all three of the children the differences from the mothers results in a duplication or deletion of chromosomes which lead to their birth defects.
Genetics is a very complex study that researchers are slowly beginning to understand. There is just so much that we have yet to discover about the human genome. Chromosomes are so tiny and they control so much of our DNA. I find it so interesting that these children only inherited a small fraction from their mothers and yet they were so affected by what was passed down to them. Even that the mothers genome contained more chromosome breakage than the children's and they were unaffected is so difficult to understand. As scientists progress into further research of chromothripsis, we may have more of the answers that we need to understand birth defects.

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