1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more than half of individuals with this disorder. Affected individuals usually have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia).
1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. The signs and symptoms of 1p36 deletion syndrome are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals.
1p36 deletion syndrome is believed to affect between 1 in 5,000 and 1 in 10,000 newborns. However, this may be an underestimate because some affected individuals are likely never diagnosed.
Most cases of 1p36 deletion syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family.
Angelo Selicorni practices in San Fermo Della Battaglia, Italy. Selicorni is rated as an Elite expert by MediFind in the treatment of 1p36 Deletion Syndrome. He is also highly rated in 33 other conditions, according to our data. His top areas of expertise are 1p36 Deletion Syndrome, Cornelia De Lange Syndrome, Metabolic Syndrome, and KBG Syndrome.
Daryl Scott is a Pediatrics specialist and a Medical Genetics expert in Houston, Texas. Scott is rated as an Elite expert by MediFind in the treatment of 1p36 Deletion Syndrome. He is also highly rated in 11 other conditions, according to our data. His top areas of expertise are 1p36 Deletion Syndrome, Hypotonia, VACTERL Association, Aneurysm Repair, and Hip Replacement. He is licensed to treat patients in Texas. Scott is currently accepting new patients.
Lauren Carter is a Pediatrics specialist and a Medical Genetics expert in Charlotte, North Carolina. Carter has been practicing medicine for over 8 years and is rated as an Elite expert by MediFind in the treatment of 1p36 Deletion Syndrome. She is also highly rated in 1 other condition, according to our data. Her top areas of expertise are 1p36 Deletion Syndrome and Periventricular Leukomalacia. She is licensed to treat patients in North Carolina. Carter is currently accepting new patients.
Published Date: January 01, 2014Published By: National Institutes of Health
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