Disclaimer: The author of the content below is not a medical professional and does not have any medical training. As such, the contents on this page, including text, graphics, images, and any other material are for informational purposes only. The Content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Our full medical disclaimer<\/a> can be found by clicking here<\/a>.<\/span><\/em><\/p>\r\n <\/p>\r\n If you have read the Our Story<\/a> page and\/or the Not the Life I Planned<\/a> post, then you know that we lost our first child, Jackson, to a chromosome abnormality called Trisomy 18<\/a>. Because we lost Jackson to Trisomy 18<\/a>, and with James having so many issues when he was born, the doctors decided to run some genetic tests to see if any of James\u2019 issues were genetic related. One of the things that they discovered was that James has something called 22q11.2 duplication. This means is that he has an extra piece of chromosome 22.<\/p>\r\n I\u2019ll admit that when I heard the words \u201cchromosome 22\u201d and \u201cextra\u201d in the same sentence, I was a little freaked out. After losing Jackson to Trisomy 18 and knowing that Down Syndrome is Trisomy 21, I knew that having an extra chromosome can cause many health and developmental issues. The geneticist stressed that 22q11.2 duplication is not an extra copy of a chromosome like in Trisomy 18 or 21, but just an extra \u201cpiece\u201d<\/em> so although there may be some health and developmental concerns, they won\u2019t be as severe as with a complete extra chromosome.<\/p>\r\n Okay, so if we are not dealing with a complete Trisomy here, what are we looking at? What issues can we expect this extra \u201cpiece\u201d <\/em>of chromosome 22 to cause? Those are just a couple of the questions that I aim to answer here. I won\u2019t go too deep into all the medical mumbo jumbo, but will instead just provide a general overview of what it is, and the possible issues it may cause. If you would like to learn more about 22q11.2 duplication, please visit the websites that I have referenced below.<\/p>\r\n The US National Library of Medicine Genetics Home Reference<\/a> says that \u201c22q11.2 duplication is a condition caused by an extra copy of a small piece of chromosome 22. The duplication occurs near the middle of the chromosome at a location designated q11.2.\u201d<\/p>\r\n They continue by saying that \u201cthe features of this condition vary widely, even among members of the same family. Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, and weak muscle tone (hypotonia). Many people with the duplication have no apparent physical or intellectual disabilities.\u201d<\/p>\r\n When James was in the NICU<\/a>, it was noted in one of our family meetings that he has muscle tone abnormalities: hypertonic in the legs and hypotonic in the trunk. We\u2019re not sure if this is part of the 22q11.2 duplication or if this is because of his cerebral palsy<\/a>. Maybe it\u2019s a combination of the two?<\/em><\/p>\r\n The other symptoms mentioned above (developmental delay and intellectual disability) could also be part of the CP<\/a> or it could be part of the 22q11.2 duplication. We just don\u2019t know.<\/em><\/p>\r\n A few symptoms were mentioned above in the US National Library of Medicine Genetics Home Reference\u2019s<\/a> description of 22q11.2 duplication.<\/p>\r\n The Genetic and Rare Diseases Information Center<\/a> has a much more extensive list:<\/p>\r\n\r\nWhat is 22q11.2 duplication?<\/span><\/h4>\r\n
Symptoms of 22q11.2 duplication<\/span><\/h4>\r\n