Learn About 3p Deletion Syndrome

What is the definition of 3p Deletion Syndrome?

3p deletion syndrome is a condition that results from a chromosomal change in which a small piece of chromosome 3 is deleted in each cell. The deletion occurs at the end of the short (p) arm of the chromosome. This chromosomal change often leads to intellectual disability, developmental delay, and abnormal physical features.

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What are the causes of 3p Deletion Syndrome?

3p deletion syndrome is caused by deletion of the end of the small (p) arm of chromosome 3. The size of the deletion varies among affected individuals, ranging from approximately 150,000 DNA building blocks (150 kilobases or 150 kb) to 11 million DNA building blocks (11 megabases or 11 Mb). The deletion can include between 4 and 71 known genes. In some individuals, the deletion involves material near the end of the chromosome but does not include the tip (the telomere).

How prevalent is 3p Deletion Syndrome?

3p deletion syndrome is likely a rare disorder; at least 30 cases have been described in the scientific literature.

Is 3p Deletion Syndrome an inherited disorder?

Most cases of 3p deletion syndrome are not inherited. The deletion occurs in one chromosome, most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. In these cases, affected people have no history of the disorder in their family.

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Who are the sources who wrote this article ?

Published Date: June 01, 2016Published By: National Institutes of Health

What are the Latest Advances for 3p Deletion Syndrome?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.