Abstract
Speech delay, intellectual disability, and behavioral disturbances are the main clinical
manifestations of Potocki–Lupski syndrome. Other features include infantile hypotonia,
the absence of major dysmorphism, sleep disorders, and congenital anomalies, particularly
of the cardiovascular system. A male patient with Potocki–Lupski syndrome is reported
herein. He showed speech and borderline cognitive delay, behavioral troubles with
no signs suggestive of autism, in the absence of major dysmorphism. A de novo 17p12-p11.2
duplication spanning 3.6 Mb was detected, with boundaries from 15,284,052 to 18,647,233
(hg19 assembly). At the age of 5 years, the child showed a noticeable improvement
of speech skills and a moderate scholastic performance was reached. Upon analysis
of the clinical manifestations of the present patient and those reported in existing
literature, we found that the syndrome may present in various degrees of clinical
expressivity. Affected patients may manifest symptoms ranging from mild behavioral
disturbances to severe degrees of autism.
Keywords
Potocki–Lupski syndrome - cognitive delay - autism - behavioral disturbances
