A century after Down syndrome was first described, scientists discovered that the root cause of this disorder is a condition called trisomy 21. What strides in research have been made since then?
Statement highlights include: Trisomy 21, also known as Down syndrome, is a genetic condition that occurs when a person has an extra copy of chromosome 21. According to the American Heart ...
One way in which they fall short is they focus on only the three most common trisomies: Down syndrome (trisomy 21), Trisomy 18 and Trisomy 13. Invasive testing will detect other trisomies ...
Antenatal diagnosis of Trisomy 13 is often made by karyotyping. This is typically performed after an assessment of risk for a chromosomal disorder is made by the maternal healthcare provider.
Dr. Klaus Patau, who has kindly reviewed sets of chromosomes from Group 13–15 of 9 metaphase plates of the propositus, believes that the present case most probably represents trisomy ...