Tara – Apr 18, 2008 6 ½ months old Nathan's Genetic Results
We got Nathan's result from his genetics test. He has Partial Trisomy 16 p. This is a partial duplication of part of the short arm of the 16th Chromosome, giving him three instead of two part of that section of the chromosome. I am sure that you are asking, "What does that really mean?" So far, we know that Nathan will be affected physically, and mentally but only time will tell how much. He is truly unique. :)
Trisomy 16 is the most common chromosomal cause of miscarriage as it is imcompatible with life. (Chromosome disorders cause more than 1/2 of all miscarriages, and Trisomy 16 occurs in more than 1% of all pregnancies.) Partial Trisomy is an extremely rare chromosomal disorder, as few infants survive until birth with additions or deletions on the 16th chromosome.
Since it is so rare, it is hard to find information on it. Trisomy 16 has been linked to autism, ADHD, seizures, learning difficulties, and a few more things. Whether he has to deal with this depend on the region that is duplicated. For instance, the autism is linked to a different section than Nathan's duplication, so I am hoping that won't be a factor. We have found stories of children with this who have been able to adapt quite well, and only have a few of these challenges. The variation in the amount of duplicated sections makes it difficult to project what Nathan will have to deal with as he grows. We hope to find out more when we are able to meet with our geneticist on June 3rd. Once again, most of this is from articles/research on the internet. :)
Overall, we are just blown away by our little miracle Nathan. He is such a joy and loves every moment that we spend with him. Finding out all of this has made us even more grateful that he was able to make it here. We just adore him.
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8 comments:
I just found out blog and I have only read this post and I am in tears...
My son Joshwa has partial Trisomy 16p. He is 3 1/2 years old. He was diagnosed almost a year ago now. I have not been able to find ANYONE else who has this. I would LOVE to chat with you and share info and storys. My email address is sa20mm0y0@yahoo.com I look forward to hearing from you!
oops not sure why it posted as my husband but I am Samantha. :)
Wow that makes a whole 3 of us my daughter has partial trisome 16. She is going to be 9 this April. My email address is pcates6@gmail.com If you all would like to chat.
Wow, so glad to have found you all. I am a mommy of 4 and I found out a month ago that not only do I have Partial Trisomy 16p + (the docs were shocked because they were just expecting a balanced translocation to be the cause as it usually is), but that I've passed it onto at least 2 and very likely 3 of my 4 babies. I say very likely because my firstborn died at 7 1/2 months on February 1, 2005 and I will be having tissue remaining from her autopsy tested. Tests have confrimed that I passed T16 onto my 2nd and 4th, a boy and a girl and the gene bypassed my 3rd, another girl.
Wow! I saw the link for this site and had to look, because "our Nathan" also has Partial Trisomy 16p. He is 8 years old. His exact duplication is 16 p13.11 p12.3. My husband was found to be the carrier. I would love to chat with any of you. My email address is tinarobn3@yahoo.com.
My son also has partial trisomy 16 and missing 4th chromosome as well. He is 19 mths old. Praying the doctors learn more about this
My son also has partial trisomy 16 and missing 4th chromosome as well. He is 19 mths old. Praying the doctors learn more about this
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