201 top medical experts on Potocki-Lupski syndrome across 15 countries and 7 U.S. states, including 29 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Potocki-Lupski syndrome: 17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Support Organizations
  4. Synonyms: trisomy 17p11 2 Chromosome 17,  Chromosome 17p11.2 Duplication Syndrome,  Duplication 17p11 2,  Duplication 17p11.2 syndrome,  Potocki-Lupski syndrome (dup(17)(p11.2p11.2)),  Trisomy 17p11 2


  

        

                    


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