Down syndrome in the progeny of a translocation heterozygote
In a small minority of cases, the origin of Down syndrome is a parent heterozygous for a Robertsonian translocation concerning chromosome 21. Meiotic segregation results in some gametes carrying a chromosome with a large additional segment of chromosome 21. In combination with a normal chromosome 21 provided by the gamete from the opposite sex, the symptoms of Down syndrome are produced even though there is not full trisomy 21.