The New York Times, July 31, 2014
The family seemed to defy the rules of genetics.
When Meriel M. McEntagart, a geneticist at St. George’s University of London, met the family in May 2012, she suspected that three of the children had a rare genetic disorder called Smith-Magenis syndrome. They had many of the symptoms of the disease, such as trouble sleeping through the night. Dr. McEntagart confirmed that diagnosis with a genetic test. The children were all missing an identical chunk of a gene known as RAI1.
One of the children had a different father from the other two, and so the mother could be the only source of their altered gene.
Continue reading “Having More Than One Set of DNA Carries Legacy of Risk”