Potocki-Lupski syndrome

Common Name(s)

Potocki-Lupski syndrome

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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Potocki-Lupski syndrome" for support, advocacy or research.

Potocki-Lupski Syndrome Outreach Foundation, Inc

To increase public awareness, understanding and acceptance of Potocki-Lupski Syndrome (Dup.17p11.2), also known as PTLS, provide education and support to families, health and educational professionals, and support ongoing research.

Last Updated: 29 Apr 2014

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Potocki-Lupski syndrome" for support, advocacy or research.

Potocki-Lupski Syndrome Outreach Foundation, Inc

To increase public awareness, understanding and acceptance of Potocki-Lupski Syndrome (Dup.17p11.2), also known as PTLS, provide education and support to families, health and educational professionals, and support ongoing research.

http://www.PTLSfoundation.org

Last Updated: 29 Apr 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Potocki-Lupski syndrome" returned 8 free, full-text research articles on human participants. First 3 results:

Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome.
 

Author(s): Cha Gon Lee, Sang-Jin Park, Jun-No Yun, Shin-Young Yim, Young Bae Sohn

Journal: J. Korean Med. Sci.. 2012 Dec;27(12):1586-90.

 

Deletion and duplication of the -3.7-Mb region in 17p11.2 result in two reciprocal syndrome, Smith-Magenis syndrome and Potocki-Lupski syndrome. Smith-Magenis syndrome is a well-known developmental disorder. Potocki-Lupski syndrome has recently been recognized as a microduplication ...

Last Updated: 20 Dec 2012

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Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome.
 

Author(s): Zhe Sun, Pengfei Liu, Xueyuan Jia, Marjorie A Withers, Li Jin, James R Lupski, Feng Zhang

Journal: Hum. Mol. Genet.. 2013 Feb;22(4):749-56.

 

Copy number variations (CNVs) in the human genome contribute significantly to disease. De novo CNV mutations arise via genomic rearrangements, which can occur in 'trans', i.e. via interchromosomal events, or in 'cis', i.e. via intrachromosomal events. However, what molecular mechanisms ...

Last Updated: 25 Jan 2013

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Searching for Potocki-Lupski syndrome phenotype: a patient with language impairment and no autism.
 

Author(s): A Gulhan Ercan-Sencicek, Nicole R Davis Wright, Stephen J Frost, Robert K Fulbright, Susan Felsenfeld, Lesley Hart, Nicole Landi, W Einar Mencl, Stephan J Sanders, Kenneth R Pugh, Matthew W State, Elena L Grigorenko

Journal: Brain Dev.. 2012 Sep;34(8):700-3.

 

Potocki-Lupski syndrome (PTLS; OMIM 610883) is a genomic syndrome that arises as a result of a duplication of 17p11.2. Although numerous cases of individuals with PTLS have been presented in the literature, its behavioral characterization is still ambiguous. We present a male child ...

Last Updated: 6 Aug 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Potocki-Lupski syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.