Medical questions & health advice by board certified doctors
"Will my son's genetics follow up tell us whether he has Down's Syndrome?"
I am worried that my son has Down's syndrome. Will this help?
Judging from your question, it sounds like you have been to see your son's pediatrician who felt there was some concern for Down's syndrome and gave you a referral to a medical geneticist. What I can do is tell you a bit about Down's syndrome testing which I hope will help to answer your question. Down's syndrome is one of the most common types of acquired genetic diseases. That is to say that it is not inherited from your or your partner, but does result from a genetic problem. Down's syndrome children are born with an extra copy of one of their chromosomes (number 21). This extra copy causes the various issues that occur with Down's syndrome patients. This extra chromosome is found by doing genetic testing on a sample of your son's cells. Most of the time when a child is born with Down's syndrome certain other problems that are found suggest that the child needs the genetic testing. The best initial type of physician for you to see after your son's genetic tests come back is your son's pediatrician. If the test is positive, then he or she will know what additional types of physicians your son will need to see and will be able to connect you with resources in the community. Good luck.
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