What is 22q duplication?

Overview. 22q11. 2 duplication syndrome is a condition caused by an extra copy of a small piece of chromosome 22 which contains about 30 to 40 genes. The features of this condition vary widely, even among members of the same family (intrafamilial variability).

What is DiGeorge syndrome?

DiGeorge syndrome is a condition present from birth that can cause a range of lifelong problems, including heart defects and learning difficulties. The severity of the condition varies. Some children can be severely ill and very occasionally may die from it, but many others may grow up without realising they have it.

Is 22q duplication a disability?

The features of this condition vary widely, even among members of the same family. Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, and weak muscle tone (hypotonia). Many people with the duplication have no apparent physical or intellectual disabilities.

What causes chromosome duplication?

The duplication occurs when part of chromosome 1 is copied (duplicated) abnormally, resulting in the extra genetic material from the duplicated segment. If the condition is inherited from a parent, it means that one of the parents also has the extra piece of genetic material.

What happens if you are missing chromosome 22?

In children with this syndrome, a tiny piece of chromosome 22 is missing. This can cause many health problems. These problems may range from heart defects and developmental delays to seizures. The child may also have changes in how the eyes, nose, or ears look.

What happens if u have 22 chromosomes?

Other changes in the number or structure of chromosome 22 can have a variety of effects. Intellectual disability, delayed development, delayed or absent speech, distinctive facial features, and behavioral problems are common features.