Detection

It can be detected before symptoms appear.

It can be detected prenatally. The mother can have an amniocyte or chorionic villus done and cells of the fetus can be taken from the amniotic fluid. A karyotype will be done of a cell and the chromosomes will be studied for mutations. If a translation occurs between chromosomes 14 and 21 then you know the infant has Robertsonian Translocation. Parents can take a blood test to find out if they are a carrier.