Potocki-Lupski SyndromeSymptoms, Doctors, Treatments, Advances & More
Potocki-Lupski Syndrome Overview
Learn About Potocki-Lupski Syndrome
Potocki-Lupski syndrome is a condition that results from having an extra copy (duplication) of a small piece of chromosome 17 in each cell. The duplication occurs on the short (p) arm of the chromosome at a position designated p11.2. This condition is also known as 17p11.2 duplication syndrome.
Potocki-Lupski syndrome results from a duplication of genetic material at 17p11.2. In about two-thirds of affected individuals, the duplicated segment includes approximately 3.7 million DNA building blocks (base pairs), also written as 3.7 megabases (Mb). (A deletion of this segment causes a related condition called Smith-Magenis syndrome.) In the remaining one-third of cases, the duplication is larger or smaller, ranging from less than 1 Mb to almost 20 Mb. All of these duplications affect one of the two copies of chromosome 17 in each cell.
Potocki-Lupski syndrome affects an estimated 1 in 25,000 people worldwide. More than 50 affected individuals have been described in the medical literature.
This condition has an autosomal dominant pattern of inheritance, which means one copy of a 17p11.2 duplication in each cell is sufficient to cause the disorder.
Lorraine Potocki is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Houston, Texas. Dr. Potocki is rated as an Elite provider by MediFind in the treatment of Potocki-Lupski Syndrome. She is also highly rated in 10 other conditions, according to our data. Her clinical expertise encompasses Potocki-Lupski Syndrome, Smith-Magenis Syndrome, Hypotonia, and Trisomy 17 Mosaicism. Dr. Potocki is currently accepting new patients.
Sarah Elsea is a Medical Genetics provider practicing medicine in Houston, Texas. Dr. Elsea is rated as an Elite provider by MediFind in the treatment of Potocki-Lupski Syndrome. She is also highly rated in 14 other conditions, according to our data. Her clinical expertise encompasses Smith-Magenis Syndrome, Potocki-Lupski Syndrome, Hypotonia, and Zellweger Syndrome.
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James Lupski is a Pediatrics provider practicing medicine in Houston, Texas. Dr. Lupski is rated as an Elite provider by MediFind in the treatment of Potocki-Lupski Syndrome. He is also highly rated in 37 other conditions, according to our data. His clinical expertise encompasses Potocki-Lupski Syndrome, Hypotonia, Achalasia Microcephaly Syndrome, and Microcephaly.
Published Date: October 01, 2017
Published By: National Institutes of Health