The term contiguous gene syndromes describes a group of disorders in which a small deletion or duplication of genetic material that contains multiple genes causes a recognizable phenotype.

What is contiguous gene syndrome?

The term contiguous gene syndromes describes a group of disorders in which a small deletion or duplication of genetic material that contains multiple genes causes a recognizable phenotype.

How do Microdeletions happen?

A microdeletion is an abnormality that occurs when a piece of a chromosome is missing. In fact, it’s just what it sounds like: micro (tiny); deletion (taken away). You might remember from high school biology that virtually all of our cells contain chromosomes with DNA; we get 23 from each parent for a total of 46.

Why do Microdeletions happen?

5q31. 3 microdeletion syndrome is caused by a chromosomal change in which a small piece of chromosome 5 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q31. 3.

Are Microdeletions common?

Some microdeletion syndromes are very rare, while others are more common such as DiGeorge syndrome, Prader-Willi syndrome, Angelman syndrome, Williams syndrome, and Wolf-Hirschhorn syndrome.

How are microdeletions inherited?

1 microdeletion is inherited in an autosomal dominant pattern, which means that missing genetic material from one of the two copies of chromosome 1 in each cell is sufficient to increase the risk of delayed development, intellectual disability, and other signs and symptoms.

Is it worth testing for microdeletions?

Data from large studies has been slow to appear, but the sparse evidence available suggests that microdeletion screens are much less reliable than similar tests for Downs syndrome. Marketing materials usually draw attention to a test’s detection rates—how accurately it picks up a genetic alteration.

What is Coffin Lowry Syndrome?

Coffin-Lowry syndrome (CLS) is a rare genetic disorder characterized by intellectual disability; abnormalities of the head and facial (craniofacial) area; large, soft hands with short, thin (tapered) fingers; short stature; and/or various skeletal abnormalities.