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.
Office
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.
Summary: Currently, there is no clinically available genetic-based treatment for RAI1 (Retinoic Acid-Induced 1) -related disorders other than symptomatic management and there are no established clinical or molecular biomarkers that could be used as measures for the efficacy of therapy in future treatment studies. Biomarkers are measures of what is happening inside the body, shown by the results of laborato...
Published Date: October 01, 2017
Published By: National Institutes of Health