PTLS Info

Genetically speaking, Potocki–Lupski syndrome (PTLS), also known as dup(17)p11.2p11.2 syndrome, trisomy 17p11.2 or duplication 17p11.2 syndrome, is a contiguous gene syndrome involving the microduplication of band 11.2 on the short arm of human chromosome 17 (17p11.2). The duplication was first described as a case study in 1996.

In 2000, the first study of the disease was released, and in 2007, enough patients had been gathered to complete a comprehensive study and give it a detailed clinical description.

1 in 20,000

We know that this dedication is predicted to be observed in at least 1 in 20,000 individuals and that patients with PTLS often have low muscle tone, poor feeding and failure to thrive in infancy. 

Although PTLS is considered a “chromosomal” disorder, diagnosis is often missed on a routine chromosome analysis. Due to technological advances in cytogenetics,specifically the use of array comparative genomic hybridization (aCGH) for genetic diagnosis, microdeletions and microduplications can be detected with equal fidelity.

Hundreds of chromosome segments can be analyzed at one time searching for chromosomal imbalances. We anticipate that many more individuals will be diagnosed with dup 17p11.2 as this testing is performed more routinely in persons with developmental delay, mental retardation, and/or autism spectrum disorder.

For more detailed information please visit Baylor College of Medicine, Department of Molecular and Human Genetics. Those on the foundation’s advisory board have done much research and provide more detailed information on this genetic syndrome