3p Deletion Syndrome Overview
Learn About 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.
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).
3p deletion syndrome is likely a rare disorder; at least 30 cases have been described in the scientific literature.
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.
Chih-ping Chen practices in Taishan, Taiwan. Chen and is rated as an Elite expert by MediFind in the treatment of 3p Deletion Syndrome. Their top areas of expertise are Trisomy 14 Mosaicism, Chromosome 8p Deletion, Cystic Hygroma, and Mosaic Trisomy 7.
Schu-rern Chern practices in Taiwan. Chern and is rated as a Distinguished expert by MediFind in the treatment of 3p Deletion Syndrome. Their top areas of expertise are 3p Deletion Syndrome, Mosaic Trisomy 9, Mosaicism, and Trisomy 12 Mosaicism.
Wayseen Wang practices in Taiwan. Wang and is rated as a Distinguished expert by MediFind in the treatment of 3p Deletion Syndrome. Their top areas of expertise are Trisomy 14 Mosaicism, Chromosome 22 Duplication, Kozlowski Warren Fisher Syndrome, and Trisomy 12 Mosaicism.
Published Date: June 01, 2016
Published By: National Institutes of Health