What is a 22q11.2 deletion?
Genes are the recipe book of life. Even identical twins are subtly different individuals and that’s because everyone’s cooking is different! Combinations of chemical compounds make DNA. Genes are sections of DNA and long strands of DNA form chromosomes. Most people have 23 pairs of chromosomes (46 in total), with one of each pair coming from the mother and the other from the father. Chromosomes are numbered 1 (the largest pair) to 22 (the smallest pair); the 23rd pair are called sex chromosomes (X and Y) because they determine whether a person is male or female and the others are called autosomes. Each of the 46 chromosomes has a ‘p’ arm, which is short, (‘p’ for petite) and a ‘q’ arm, which is long, (‘q’ follows ‘p’ in the alphabet – and you thought this was complicated!). Located along these arms are clusters of genes. A person with DiGeorge syndrome/VCFS has the 2nd portion of the 1st sub-division of the 1st cluster of information on the ‘q’ arm of one of their 22nd chromosomes miss
