Potocki-Lupski Syndrome (PTLS) is a rare chromosome Duplication of 17p11.2 that is predicted to reach 1 in 20,000 children. When the first child in the United States was diagnosed with Potocki-Lupski Syndrome, in 1991, and studied in 1996, very little was known about duplication 17p11.2, many questions and very few answers. As more children are being diagnosed, we see there are many similarities, with some variations. This duplication has a spectrum of symptoms and characteristics, found in both boys and girls. Some of the children have a small area duplicated, others with a larger band of duplication. Some children have other chromosomal differences as well. These variations will present themselves in various health and developmental issues.

Potocki-Lupski Syndrome (PTLS), originally known simply by the genetic characterization “duplication 17p11.2 syndrome”, is the recently recognized genetic reciprocal of Smith-Magenis Syndrome (SMS).  Charcot-Marie-Tooth (CMT) is located in the region next to the PTLS region, therefore, some children may have both syndromes. PTLS is a rare genetic disorder that is associated with a wide range of clinical features including infantile hypotonia (abnormally low muscle tone), failure to thrive, autistic features, sleep apnea, and structural cardiovascular anomalies. Individuals with PTLS exhibit varying degrees of these symptoms and many of them also include autistic spectrum disorder as well as mild to serious learning disabilities and global developmental delays. This duplication is something that just happened. It is not something that is passed down, unless you have PTLS yourself. For the child who has PTLS, there is a 50/50 chance that they will pass it on.

One thing we do know, is that these beautiful children are happy, full of life, and filled with talents that may seem hidden, but given time and maturity, they will show themselves. Patience and time to mature brings about many wonderful developments. Celebrate your child for who they are, and know life will be ever changing for them. Through the tears of some of the challenges, these children will blossom and great joy will shine through.

For more information- www.ptlsfoundation.org   *    info@ptlsfoundation.org


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