[1] Its reciprocal disease is Smith–Magenis syndrome (SMS), in which the chromosome portion duplicated in PTLS is deleted altogether.
[9] Other unique features of Potocki–Lupski syndrome include infantile hypotonia, sleep apnea, structural cardiovascular anomalies, cognitive deficits,[10] abnormal social behaviors,[9] learning disabilities, attention-deficit disorder, obsessive-compulsive behaviours, malocclusions, short stature and failure to thrive.
[1][11] After noting that autism is commonly associated with PTLS, researchers at the Centro de Estudios Científicos and the Austral University of Chile genetically engineered a PTLS "model mouse" where the syntenic chromosome segment was duplicated, and examined the social behaviours of these mice versus those without the anomaly (the "wild-type").
They also found that male mice, in some scenarios, showed increased anxiety and dominant behaviour than the control group.
Anatomically, the engineered mice had a decreased brain-to-body mass ratio and an alteration in the expression of several genes in the hippocampus.
[14] One group has noted that, in a mouse model, the flanking genes in the duplicated segment were also overexpressed, suggesting some new candidates for analysis, including MFAP4, TTC19 and GJA12.