I have a 7 year old son who has autism with hyperlexia and dyspraxia. Additionally he has a form of Oculocutaneous Albinism; type 2 is suspected. Chromosome microarray testing found a microdeletion on the long arm of chromosme 19. Further testing discovered that my husband has a smaller microdeletion in the same area. The chromosome results are so uncommon that our doctors are unable to determine the clinical significance of it.
When I was pregnant with my son, I had an ultrasound at 9 weeks for size and dating. This u/s found a cystic hygroma, which was monitored by additional ultrasounds for the rest of the pregnancy. The CH resolved by the 20 week scan. My son was born at 41.5 weeks and a healthy weight/size, but has always had a small growth on the back of his neck.
My question is: in your expereince and/or research, is there any connection between all these conditions? I understand that the albinism is probably unrelated to the other conditions. But do you know of any connection between cystic hygroma, chromosome microdeletion, and autism, or any combination of these? I have asked my son's doctors about this, but all they can tell me is "it's possible, but uncertain." I am hoping you might have additional knowledge.
Or is it that my husband and I are just a bad genetic match?
Mom to an amazing little guy, age 9 (Autism, Hyperlexia, Dyspraxia, Albinism, Chromosome Microdeletion)
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