<p>So my sister has autism. We've seen a million doctors including the geneticist. We got back new results today that my sister has a copy on chromosome 22q12.3 between 31,974,676-32,067,725. It's apparently associated with congenital muscular dystrophy and severe mental retardation.</p>
<p>Anyways... My mom's at work right now and she wanted me to do some research before she got home. She's really, really upset.</p>
<p>The problem is that I don't understand any of this and don't even know where to begin even on google.</p>
<p>So can anyone help me or at least lead me in the right direction?</p>
<p>Well in simple terms, your sister has a duplicated gene on chromosome 22, which is a chromosome mutation. Those numbers 31, 974, 676-32, etc. are the genes on the chromosome, in which the duplication is in between. Those numbers are telling you where the duplication occurred. It’s associated with the dystrophy because the duplication disrupted the developing of normal synaptic, or neural, pathways. This means that instead of making the chemical to help grow normal neural pathways, the duplication blocked out that chemical, leaving spaces, if so, in her neurological pathways, which is the cause of her mental retardation. When there are some gaps present in her pathways, then some information she experiences will progress slower between her brain and body than it would if she did not have the gaps in the pathways. I hope this is easy to read and of some assistance.</p>