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Friday, July 25, 2014
Autism and translocation of 1 & 4 chromosomes
I am a mother of four and have a balanced translocation involving chromosomes 1 and 4. I have 2 children (b) and (g) who both have an imbalance, creating extra chromosome 4. Both have Autistic like tendencies only one, the boy, has been diagnosed as having Autism. He also has mild craniosynastosis, not requiring surgery.
My other two children are boys, one having a balanced translocation the other never having been tested are both ‘normal’ I guess. Is this imbalance a possible cause of Autism meaning... is there any supporting evidence or research?
This is a common question arising from our increasing ability to look at very specific chromosomal and genetic changes. The answer is: We don't know.
At present, several hundred gene abnormalities have been identified in children with autism, and among them are a variety of abnormalities with both chromosome 1 and chromosome 4.
What is unclear is whether this causes the child's autism because so many other children with autism do not have these abnormalities. In other words, perhaps the child's autism would have occurred with or without the chromosomal abnormality. In this case, one child with the abnormality has autism and the other does not, suggesting that it is not related to extra chromosome 4 material.
At present, no genetic finding suggests that the recommended treatments for autism will not be effective, or that certain treatments will be more effective. In that regard, following your provider's suggestions for treatment is the best plan.
Daniel Coury, MD
Clinical Professor of Pediatrics and Psychiatry
College of Medicine
The Ohio State University