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 is in Taiwan. Chen is rated as an Elite expert by MediFind in the treatment of 3p Deletion Syndrome. They are also highly rated in 160 other conditions, according to our data. Their top areas of expertise are Chromosome 22 Duplication, Mosaicism, Trisomy 2 Mosaicism, and Hygroma Cervical.
Scott Mclean is a Pediatrics specialist and a Medical Genetics doctor in San Antonio, Texas. Dr. Mclean has been practicing medicine for over 36 years and is rated as an Advanced doctor by MediFind in the treatment of 3p Deletion Syndrome. He is also highly rated in 11 other conditions, according to our data. His top areas of expertise are Y Chromosome Infertility, Chromosome 21q Deletion, Chromosome 18p Deletion, and 15q11.2 Microdeletion. He is licensed to treat patients in Texas. Dr. Mclean is currently accepting new patients.
Susan Hayflick is a Pediatrics specialist and a Medical Genetics doctor in Portland, Oregon. Dr. Hayflick has been practicing medicine for over 37 years and is rated as an Advanced doctor by MediFind in the treatment of 3p Deletion Syndrome. She is also highly rated in 13 other conditions, according to our data. Her top areas of expertise are Chromosome 13q Duplication, Chromosome 9p Deletion, Chromosome 7p Deletion, and Chromosome 18p Deletion. She is licensed to treat patients in Oregon. Dr. Hayflick is currently accepting new patients.
Published Date:updated Last, June
Published By: National Institutes of Health
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