As seen in the photo just above the presence of an extra eighteenth chromosome plays a large role in the hundreds of abnormalities that are associated with this life threatening disorder. Edward's Syndrome is therefore better known in the scientific world as a aneuploidy which is a term that refers to the presence of an extra chromosome in a cell. Researchers have having difficulties locating the exact location of this gene because of the differences that result in each individual case. One key point that has been discovered in the research of trisomy 18 is an increase of methylene tetrahydrofolate reductase gene (MTHFR) in the fetus of trisomy 18 but this is not seen in all cases. |
Edward's Syndrome – Trisomy 18- is a common chromosomal disorder that occurs in three different forms:
These three forms all play a role in the exchange of genetic material resulting in an extra eighteenth chromosome. This genetic disorder occurs on 18q [4,12-15]which in other words the long arm of chromosome 18.in partial cases and research is still in the process of finding the exact location of this gene. Although in mosaic and full (complete) cases the presence of an extra chromosome is the main cause. Researchers have also came to note that woman who are about 40 years of age tend to have a higher risk of bearing a child with this chromosomal condition. |