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What are the chances of familial Down Syndrome for me? |
My aunt has a balanced genetic translocation that resulted in children with Down Syndrome. None of her siblings had children with Down Syndrome, nor are there any other cases of it in the family. What are the chances that I would have a translocation as well? Translocation Down syndrome can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 21 and another chromosome. This rearrangement is called a balanced translocation because there is no extra material from chromosome 21. Although they do not have signs of Down syndrome, people who carry this type of balanced translocation are at an increased risk of having children with the condition. The chances of having a child with Down Syndrome isn't just within geneolgy. It can happen to anyone. In your case, it sounds like a close family member had issues with it and you are scared. Deservingly so, but you should not worry. Stress, when pregnant is much worse for a baby's health and can lead to far worse issues than D.S. You should be okay and you won't have a problem with having a child with DS. When you have your ultra sound, the doctor or nurse will measure the baby's neck width, and that should be a good estimate if you will have a baby with D.S. Most babys with D.S. have a much wider neck and this can be caught in the early stages of your pregnancy. Good luck and don't worry about it. Worrying will do you know good. TRUST ME!! :) |
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Sounds like you had the Triple screen. It is not certain that your baby will have downs. The only marker to positively ID downs is an amnio that genetically detects the Trisomy 21 defect on the d... "Most cases of Down syndrome are not inherited, but occur as random events during the formation of reproductive cells (eggs and sperm)." -- ... Down syndrome, also known as Trisomy-21, is a genetic condition in which there are 3 copies of the 21st chromosome, as opposed to the normal 2 copies. A person with Down syndrome has 47 chromosome... speech therapy for a child diagnosed with DS is nothing! if your child goes through an early intervention program or birth to 3 program offered by the state. if you have insurance your insurance wi... There are several sites that are very helpful for you to find different chromsome problems. I have included 2 that will help you the most. Both are interactive and explain in detail about gene... its a disorder when an extra chromosome is added to the normal # of chromosomes ...it's very unlikely. down's syndrome is caused by a chromosomal abnormality. the most common cause is "trisomy 21". the normal person has 2 chromosomes in each pair... a down... Down's syndrome is caused by trisomy of chromosome 21, and it is the most common autosomal trisomy in newborns. It is not sex-linked. Therefore, it affects newborn males and females equally.... |
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