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; autism; behavioral disturbances; cognitive delay.
17p11.2 and Xq28 Duplication Detected in a Girl Diagnosed With Potocki-Lupski SyndromeDS Sumathipala et al. BMC Res Notes 8, 506. PMID 26419729. - Case ReportsDespite the absence of expected behavioural symptoms, many features of this patient are in accordance with Potocki-Lupski syndrome. This is the first diagnosed patient in …
Potocki-Lupski SyndromeL Potocki et al. PMID 28837307. - ReviewPTLS is inherited in an autosomal dominant manner. The majority of affected individuals have a de novo duplication; however, parent-to-child transmission has been …
Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients With Smith-Magenis Syndrome and Potocki-Lupski SyndromeCG Lee et al. J Korean Med Sci 27 (12), 1586-90. PMID 23255863. - Case ReportsDeletion and duplication of the -3.7-Mb region in 17p11.2 result in two reciprocal syndrome, Smith-Magenis syndrome and Potocki-Lupski syndrome. Smith-Magenis syndrome is …
Inherited dup(17)(p11.2p11.2): Expanding the Phenotype of the Potocki-Lupski SyndromePL Magoulas et al. Am J Med Genet A 164A (2), 500-4. PMID 24311450. - ReviewPotocki-Lupski syndrome (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, failure to thrive, cardiovascular malformations, develop …
Searching for Potocki-Lupski Syndrome Phenotype: A Patient With Language Impairment and No AutismA Gulhan Ercan-Sencicek et al. Brain Dev 34 (8), 700-3. PMID 22178197. - Case ReportsPotocki-Lupski syndrome (PTLS; OMIM 610883) is a genomic syndrome that arises as a result of a duplication of 17p11.2. Although numerous cases of individuals with PTLS ha …