Guest guest Posted March 16, 1999 Report Share Posted March 16, 1999 Two short things: Syndrome or Association? In the genetics world, its somewhat of a semantic distinction. A syndrome is something which is thought to have a specific cause or causes. An association is a collection of features with lots of causes. Syndromes are more likely (but not always) genetic. Associations aren't genetic. I use syndrome because I am convinced these kids all hvae the same thing. They look alike, they act alike, they move alike, etc. When we find the gene, that will prove it. How can it be genetic with no family history? Well, everything has to start somewhere. There are a couple of families in the literature (one my group published about 15 years ago) with multiple affected generations. In the past, most people with CHARGE A) weren't recognized as CAHRGE and/or didn't get the care and education needed to become independent adults and/or C) were not able to have children - so there are only very rare opportunities to see it run in a family. It is important to know because if it is genetic, the risk of CHARGE to children of people with CHARGE could be as high as 50%! That's part of why we need to find the gene. Meg Meg Hefner MS Genetic Counselor St. Louis, MO meg@... Quote Link to comment Share on other sites More sharing options...
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