genetic counselor

posted on February 1, 2001 - 11:54am
One area that causes frequent misunderstanding is the phenomenon of germ line mosaicism. Here's a typical question (actually a composite of several queries to "Ask the Experts"): Five years ago, I gave birth to a child with Duchenne muscular dystrophy (DMD). At that time, they tested my blood cell DNA and said I didn't have the deletion in my dystrophin genes that causes DMD. My son, Danny,...
posted on April 1, 2000 - 12:30pm
Pam Rhatigan remembers the day in 1981 when she and her husband, Brian, finished their genetic counseling sessions at the University of Arizona's medical center. They'd gone to discuss the chances that a baby they might conceive could be born with spinal muscular atrophy, a genetic disorder of muscle-controlling nerve cells that Pam was born with in 1953. There was no family history and little...