Tag: Down syndrome

By Dr Priya Kadam, It may sound like code language or a password. But no, 22q11.2 is the name of one of the most common chromosomal disorders after Down syndrome. What is 22q11.2? It's caused by a loss or deletion of a small part of chromosome 22 at position q11.2. Hence the name 22q11.2 deletion syndrome. The disorder has variable presentation. It may affect different parts of the body, mostly the heart, kidney, mouth and brain, along with the immune and endocrine system, leading to multiple deformities. With incidence of one in...