Dr. Elizabeth Berry-Kravis and Dr. Walter Kaufmann presented two of the “most-cited” publications from the American Journal of Medical Genetics Part A and answered questions during a moderated Q&A.
Brenda Finucane, MS, LGC, associate director and professor at Geisinger ADMI, explains mosaicism, plus answers some burning genetics questions from the Fragile X community.
More research needs to be done, but knowing more about how FXS differs in people with and without methylation mosaicism may eventually help guide the expectations and treatment of individuals with FXS.