Potocki-Lupski syndrome


Potocki-Lupski Syndrome (PTLS) is a recently discovered condition linked to a microduplication of chromosome 17p11.2..All reported cases have occurred sporadically without bias in the parental origin of rearrangements. Most duplications are 3.7 Mb in size and only identifiable by array comparative genomic hybridization (CGH) analysis. Approximately 60% of PTLS patients harbor a microduplication of chromosome 17p11.2 


Potocki-Lupski syndrome is characterized by

  • infantile hypotonia
  • failure to thrive
  • cardiovascular malformations
  • developmental delay
  • intellectual disability
  • behavior abnormalities (can include autism spectrum disorder)
  • speech problems
  • feeding difficulties
  • sleep apnea
  • hyperactivity
  • low muscle tone.
  • mental retardation
  • congenital anomalies


Parents need to talk to their child's health care provider to schedule a genetic testing that will determine if the duplication of 17p11.2 is present. A diagnosis of PTLS may be given if a duplication of 17p11.2 is found in combination with some of the symptoms of PTLS. To evaluate potential heart problems, an electrocardiogram and/or an echocardiogram could be performed. A sleep study may be also be performed if your child seems to have sleeping problems (is waking up early) to rule out sleep apnea.


Because PTLS is a multi-factorial condition, parents should talk to their health care provider about the multiple therapies that are available. This is usually arranged through your area's early childhood intervention program. Therapies may include speech therapy for verbal apraxia, occupational therapy to address low muscle tone and possible sensory integration issues, and behavioral therapy. Dietary intervention may also be helpful for many children with Potocki-Lupski Syndrome. This includes a gluten and casein free diet plus a diet free of food colorings. Parents have reported great success in treating verbal apraxia with fish oils.