Cri-du-chat syndrome

Causes

What gene change causes Cri-du-chat syndrome?

Cri-du-chat syndrome is caused by having missing genetic information, called a deletion. Genetic information is organized in our cells on structures called chromosomes. Most cells in the body typically contain 46 chromosomes, which are organized into 23 pairs of 2. Babies inherit one of each pair of chromosomes from each of their parents in the egg and sperm cells. The first 22 pairs of chromosomes are numbered 1-22 and are referred to as autosomes, whereas the 23rd pair of chromosomes consists of the sex chromosomes, which determine gender (XX for females and XY for males).

Cri-du-chat syndrome is caused by a deletion (missing piece of chromosome) near the end of chromosome 5. The genetic information that is missing on this part of chromosome 5 causes the health and developmental problems people with Cri-du-chat may have.

Show More Content Like This

More Causes Content

What happens because the genetic change in Cri-du-chat syndrome?

Does anything make Cri-du-chat syndrome worse?

Is the genetic change a predisposition or a cause for Cri-du-chat syndrome?

What happens because the genetic change in Cri-du-chat syndrome?

Cri-du-chat syndrome is caused by a deletion of part of chromosome number 5, meaning that a piece of the chromosome, and the genes that part of the chromosomes contains, are missing. Genetic information is organized in our cells on structures called chromosomes. Most cells in the body typically contain 46 chromosomes, which are organized into 23 pairs of 2. Babies inherit one of each pair of chromosomes from each of their parents in the egg and sperm cells.

Individuals with Cri-du-chat syndrome are missing a piece of one of their two chromosome number 5s. The other chromosome 5 is typically intact. However, having the deletion (missing piece of chromosome) on one of the two copies of chromosome 5 present in the cells is sufficient to cause the health and developmental problems seen in Cri-du-chat syndrome (known as autosomal dominant inheritance). Having only one copy of the genetic information typically found on that part of chromosome number 5, instead of the typical two, causes an imbalance of genetic information in the body, which leads to the health and developmental problems people with Cri-du-chat syndrome may have.

Does anything make Cri-du-chat syndrome worse?

No, there is nothing that makes the symptoms of Cri-du-chat syndrome worse. However, an affected child's development can be maximized with help from an early age, such as physical, occupational, and speech therapy.

Not all individuals with Cri-du-chat syndrome are affected in exactly the same ways or have all of the characteristics described with Cri-du-chat syndrome.

Is the genetic change a predisposition or a cause for Cri-du-chat syndrome?

Deletion (missing piece) of a specific region near the end of chromosome 5 causes Cri-du-chat syndrome. No other factor is necessary in order to be affected with Cri-du-chat syndrome.

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this site, you are agreeing to our use of cookies.

Continue Find out more about our use of cookies and similar technology

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me