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https://rarediseases.info.nih.gov/diseases/10145/potocki-lupski-syndrome
63 rows · Aug 16, 2017 · The Potocki-Lupski Syndrome Foundation website provides information about Potocki-Lupski syndrome. The Potocki-Lupski Syndrome Foundation is an organization dedicated to furthering research while supporting and educating the medical community and families who have loved ones diagnosed with PTLS. Unique is a source of information and support to ...
https://ghr.nlm.nih.gov/condition/potocki-lupski-syndrome
Oct 15, 2019 · 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 …
https://www.ncbi.nlm.nih.gov/books/n/gene/potocki-lupski/
Aug 24, 2017 · Potocki-Lupski syndrome (PTLS) is characterized by cognitive, behavioral, and medical manifestations. Cognitively, most individuals present with developmental delay, later meeting criteria for moderate intellectual disability. Behaviorally, issues with attention, hyperactivity, withdrawal, and anxiety may be seen. Some individuals meet criteria for autism spectrum disorder. Medically ...Author: Lorraine Potocki, Juanita Neira-Fresneda, Bo Yuan
http://ptlsfoundation.org/about-ptls-outreach-foundation/family-support-forum/
Home / About PTLS Outreach Foundation / Family Support Forum. Family Support Forum. This is a place where families, and those who support the family of one with PTLS (dup 17p11.2), can share information, experiences, ask questions, and be a part of a community who understands the journey they are on. ... Potocki Lupski Syndrome Outreach ...
http://ptlsfoundation.org/about-ptls-outreach-foundation/
The Medical Advisory Board is comprised of professionals in the medical field who have generously volunteered their time to support the efforts of the PTLS Outreach Foundation. Each member of the Medical Advisory Board is devoted to conducting research on developmental and genetic disorders including Potocki-Lupski Syndrome.
https://diseaseinfosearch.org/disease/5903/support
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3059370/
Objective. Failure to thrive (FTT) is a feature of children with Potocki-Lupski syndrome (PTLS) [duplication 17p11.2]. This study was designed to describe the growth characteristics of 24 subjects with PTLS from birth through age 5 years in conjunction with …Cited by: 26
https://www.omim.org/entry/610883
A number sign (#) is used with this entry because the Potocki-Lupski syndrome (PTLS) is a contiguous gene syndrome caused by duplication of chromosome 17p11.2. See also Smith-Magenis syndrome (SMS; 182290), which is associated with the reciprocal deletion of chromosome 17p11.2 and shows overlapping clinical features.
https://www.reverta.com/autism/potocki-lupski-syndrome.html
Potocki-Lupski Syndrome (PTLS) Potocki-Lupski Syndrome (PTLS) is a recently discovered condition linked to a duplication of chromosome 17p11.2, which can cause a number of health problems including developmental delay, speech problems, feeding difficulties, …
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