What is Rare chromosome abnormality?

Easily described, the chromosomes are the structure that carry our genes. Most people have 46 chromosomes assembled in 23 couples, one half of every couple comes from the father and the other half from the mother. The 22 first couples are named after their number (1-22) while the last couple, the sex chromosomes, are labeled X and Y. A male has one of each (XY) and a woman has two X chromosomes (XX).

Chromosomal abnormality means that there is a piece of a chromosome that is missing (called deletion) or that an extra copy of a piece of a chromosome exists (called duplication). This can, in turn, cause a person to have different forms of physical, mental or cognitive challenges or disabilities.

Rare chromosomal abnormalities, are different types of chromosomal abnormalities that are very uncommon. In many cases there are only a very few other people in the world who has the same specific type of chromosomal abnormality. And even for children with similar, or the same, type of chromosomal abnormalities, there are often great individual differences. Just as for everyone, a person with a rare chromosomal abnormality has his or her own individual differences in terms of personality, interests, strengths and challenges.