ReviewMolecular genetics & genomic medicine2018
A review of structural brain abnormalities in Pallister-Killian syndrome.
Review in Molecular genetics & genomic medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 18 citations in OpenAlex.
- A Case of Pallister-Killian Syndrome in a Newborn.Case reports in genetics · 2026Article
- Effective detection of 148 cases chromosomal mosaicism by karyotyping, chromosomal microarray analysis and QF-PCR in 32,967 prenatal diagnoses.BMC medical genomics · 2025Article
- Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.Orphanet journal of rare diseases · 2024Review
- A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication.Frontiers in genetics · 2024Article
- Article
- Case Report: A Case Study on the Neurodevelopmental Profile of a Child With Pallister-Killian Syndrome and His Unaffected Twin.Frontiers in pediatrics · 2022Article
- PeakCNV: A multi-feature ranking algorithm-based tool for genome-wide copy number variation-association study.Computational and structural biotechnology journal · 2022Article
- Transgenic modeling of Ndr2 gene amplification reveals disturbance of hippocampus circuitry and function.iScience · 2021Article
- Sleep in Children With Pallister Killian Syndrome: A Prospective Clinical and Videopolysomnographic Study.Frontiers in neurology · 2021Article
- A Novel Case of Tethered Cord in a Five-Month-Old Male With Pallister-Killian Syndrome.Cureus · 2020Article
- Clinical Variability of Pallister-Killian Syndrome in Two Egyptian Patients.Journal of pediatric genetics · 2020Article
- Pallister-Killian Mosaic Syndrome in an Omani Newborn: A Case Report and Literature Review.Oman medical journal · 2019Article
- A review of structural brain abnormalities in Pallister-Killian syndrome.Molecular genetics & genomic medicine · 2018Review
- DNA methylation in peripheral blood leukocytes in late onset Alzheimer's disease.Journal of Alzheimer's disease reportsArticle
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPallister-Killian syndrome (PKS) is a rare multisystem developmental syndrome usually caused by mosaic tetrasomy of chromosome 12p that is known to be associated with neurological defects.
methodsWe describe two patients with PKS, one of whom has bilateral perisylvian polymicrogyria (PMG), the other with macrocephaly, enlarged lateral ventricles and hypogenesis of the corpus callosum. We have also summarized the current literature describing brain abnormalities in PKS.
resultsWe reviewed available cases with intracranial scans (n = 93) and found a strong association between PKS and structural brain abnormalities (77.41%; 72/93). Notably, ventricular abnormalities (45.83%; 33/72), abnormalities of the corpus callosum (25.00%; 18/72) and cerebral atrophy (29.17%; 21/72) were the most frequently reported, while macrocephaly (12.5%; 9/72) and PMG (4.17%; 3/72) were less frequent. To further understand how 12p genes might be relevant to brain development, we identified 63 genes which are enriched in the nervous system. These genes display distinct temporal as well as region-specific expression in the brain, suggesting specific roles in neurodevelopment and disease. Finally, we utilized these data to define minimal critical regions on 12p and their constituent genes associated with atrophy, abnormalities of the corpus callosum, and macrocephaly in PKS.
conclusionOur study reinforces the association between brain abnormalities and PKS, and documents a diverse neurogenetic basis for structural brain abnormalities and impaired function in children diagnosed with this rare disorder.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.