Ok, thank you very much for replying, that's interesting. His deletion is quite large, and SLC5a7 sits comfortably within the deletion (from 2:108403223 to 2:110457727) so I would assume that he just has one whole copy of the gene on the good side of Chromosome 2, and nothing at all on the bad part, but you raise a good point in that I can't simply assume that he runs on half capacity. It's likely to be far more complex as far as phenotype goes. He's diagnosed as autistic with a chromosome deletion but I feel that so little is understood about the deletion that perhaps autism is too simple as an explanation for his behaviour patterns. When I discovered that SLC5a7 is directly involved with a neurotransmitter I was keen to find out more about whether that could explain his phenotype more. There's other genes in that section so it's very complicated and because it's such a rare deletion, with no child specifically matching that size and location of deletion, the specialists basically told me they didn't have any advice or information to give me, there's no specific syndrome, no research and so they said stick to autism support! I wasn't entirely happy with that so requested the cytogenics report and started looking at the genes in the deleted section. SLC5a7 seems like the most likely contributor but as you can see, my knowledge is limited to the first semester of university before I changed to a Business Management course. How ironic that I'd actually need that knowledge in the future! I do appreciate your help, thank you again.
