Q (this is the most common question I get asked!): so what percentage Down Syndrome is she?
A: well the answer is 100% down syndrome..you either have down syndrome or you don't however, there are three types of Down syndrome: trisomy 21 (nondisjunction), translocation and mosaicism. Down syndrome is usually caused by an error in cell division called "nondisjunction." Nondisjunction results in an embryo with three copies of chromosome 21 instead of the usual two. Prior to or at conception, a pair of 21st chromosomes in either the sperm or the egg fails to separate. As the embryo develops, the extra chromosome is replicated in every cell of the body. This type of Down syndrome, which accounts for 95% of cases, is called trisomy 21.
Mosaicism occurs when nondisjunction of chromosome 21 takes place in one - but not all - of the initial cell divisions after fertilization. When this occurs, there is a mixture of two types of cells, some containing the usual 46 chromosomes and others containing 47. Those cells with 47 chromosomes contain an extra chromosome 21. Mosaicism accounts for about 1% of all cases of Down syndrome.
Translocation accounts for about 4% of all cases of Down syndrome. In translocation, part of chromosome 21 breaks off during cell division and attaches to another chromosome, typically chromosome 14. While the total number of chromosomes in the cells remain 46, the presence of an extra part of chromosome 21 causes the characteristics of Down syndrome.
