My youngest ASD child was diagnosed with a chromosome abnormality called Chromosome 15q Duplication Syndrome (or also called Dup15q) thru genetic testing. It basically means that the person was born with an extra chromosome in there genetic makeup (instead of the normal 46 they have 47). She was a year old. I have read that researchers believe that there may be a strong link between Dup15q and ASD. I was hoping to find other Dup15q parents.
I'm a medical laboratory scientist. I have experience with using blood samples and urine samples in order to provide information to the physician's so they can make a diagnosis. I would recommend meeting with a genetic counselor that can explain what Dup15q is and what it means for you. Regarding a comment above, FISH stands for Flourescene in situ Hybridization. It is a technique that we can use to visually see a chromosome to look for abnormalities. Primarily, it is used to test for chronic myelogenous leukemia. However, it can be used for various other chromosomal abnormality tests as well.
I havent met with any doctors after getting Faith's Dup15q diagnosis. I did however come across a great website and forum of other parents like me (www.dup15q.org). They even have a parent's support group on facebook. They have been a great source of advice even though I dont fully understand what Dup15q is.
My son has duplication15q as does his younger sibling. I was tested and have the exact duplication they do. We are all on the autism spectrum. Geneticists are finding a strong link with specific genes and chromosomes that are causing autism. I would love to talk with you since I have not read any other's that have the trisomy on this thread.
Yes my son who is asd has dup 15q 11 '13. O also have the exact duplication and was a non verbal autistic child until 5 or 6
My son has something similar, he has duplacted genes, and really it doesnt mean anything, no one has perfect genes, his were 15q. FISH or something. I had my pediatriton tell me, Genetics has had us wait for about 4 months before explaing it, I go on the 17th to discuss it. The dr. ( pediatrion) looked it up, it was on dads side, dont worry, its nothing alarming, and cant be placed with anything like asd, or other things. Everyone has a mutation somewhere. Have you been to gentics yet?
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