ArticleJournal of pediatric genetics2018
A New Patient with Potocki-Lupski Syndrome: A Literature Review.
Article in Journal of pediatric genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Longitudinal oral and craniofacial follow-up of a genetically confirmed girl with Potocki-Lupski syndrome and repaired complete cleft palate: a case report.Frontiers in oral health · 2026Article
- The Co-Occurrence of Autism Spectrum Disorder and Aarskog-Scott Syndrome in an Accomplished Young Man.Pediatric reports · 2025Article
- Family case of Potocki-Lupski syndrome.Molecular cytogenetics · 2024Article
- Potocki-Lupski Syndrome in Ethiopian Child: A Case Report.Pediatric health, medicine and therapeutics · 2024Article
- Does the Potocki-Lupski Syndrome Convey the Autism Spectrum Disorder Phenotype? Case Report and Scoping Review.Journal of personalized medicine · 2023Article
- A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele.European journal of human genetics : EJHG · 2022Article
- Case report: Spinal anesthesia for cesarean section in a parturient with Potocki-Lupski syndrome.BMC anesthesiology · 2021Article
- Anesthesia in a Patient with Potocki-Lupski Syndrome.Case reports in anesthesiology · 2021Article
- Case Report: Potocki-Lupski Syndrome in Five Siblings.Frontiers in pediatrics · 2021Article
- SNP Array as a Tool for Prenatal Diagnosis of Congenital Heart Disease Screened by Echocardiography: Implications for Precision Assessment of Fetal Prognosis.Risk management and healthcare policy · 2021Article
- Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.American journal of medical genetics. Part A · 2020Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
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.
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