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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Potocki-Lupski syndrome


Other Names for this Disease

  • Duplication 17p11.2 syndrome
  • Potocki-Lupski syndrome (dup(17)(p11.2p11.2))
  • PTLS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Potocki-Lupski syndrome (PTLS) is a genetic disorder characterized by the presence of an extra copy of a tiny portion of chromosome 17 (duplication of 17p11.2). People with this duplication often have low muscle tone, poor feeding, and failure to thrive during infancy. They may also present with delayed development of motor and verbal milestones. In addition, many individuals display some behaviors commonly associated with autism spectrum disorders. While most cases of Potocki-Lupski syndrome occur sporadically, in rare cases, it may be inherited. Treatment involves physical, occupational, and speech therapy.[1][2]
Last updated: 1/22/2014

References

  1. About Potocki-Lupski (dup17p11.2) Syndrome. Baylor College of Medicine. October 4, 2013; https://www.bcm.edu/departments/molecular-and-human-genetics/potocki_lupski/index.cfm?PMID=10619. Accessed 1/22/2014.
  2. Frequently Asked Questions (FAQs). Baylor College of Medicine. May 3, 2013; https://www.bcm.edu/departments/molecular-and-human-genetics/potocki_lupski/index.cfm?PMID=10628. Accessed 1/22/2014.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about Potocki-Lupski syndrome. We will answer your question and update these pages with new resources and information.

Basic Information

  • Baylor College of Medicine has developed a website on Potocki-Lupski syndrome. This website is intended to provide information to patients, families, and physicians and to develop a support network for those coping with this condition.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Potocki-Lupski syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Duplication 17p11.2 syndrome
  • Potocki-Lupski syndrome (dup(17)(p11.2p11.2))
  • PTLS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.