This past week was like any other week with Jude. A few doctor visits and smiles. The appointments were follow ups and we created plans to keep Jude healthy. Wednesday night, I grabbed the mail and headed inside. The first piece of mail I opened up was from the Cleveland Clinic. Inside the envelope was a summary from Jude's genetics appointment. As I started reviewing the summary, I found some shocking news. When Jude had his chromosome array done in April they found he had three chromosome gains/losses. We were told that one was 15q24 microdeletion and the other two did not have any known disease causing gene. As I am reading the summary from our visit,
it states that Jude has 15q24 microdeletion syndrome, a gain of 15q26.3 which does not have any
known disease causing genes, and a gain of 3p26.3. The gain from 3p26.3 comes the CNTN4 gene. A gain or loss of the CNTN4 gene is found in people with autism spectrum disorder. I was upset. It seems like unpleasant and shocking news about my sweet Jude keeps popping up. All I could think was one more thing for Jude to face...but like everyone who has read my blog knows...Jude will do a fabulous job of keeping a smile on his face and being the best he can be!
Hi. I just came across this post searching on google. :) I just received the genetic report for my son also two weeks ago. He also has 3p26.3 gain on the cntn4 gene. If you would like to email me, my email is baellinger@hotmail.com. Thanks.
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