Pallister-Killian syndrome: a study of 22 British patients
| Autor: | Viv K. Maloney, John A. Crolla, Diana Baralle, Morag N. Collinson, Sarah J. Beal, I. Karen Temple, Moira Blyth, Shuwen Huang |
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| Rok vydání: | 2015 |
| Předmět: |
Pediatrics
medicine.medical_specialty Population Chromosome Disorders Physical examination Pallister–Killian syndrome Intellectual Disability Intellectual disability Genetics medicine Humans Abnormalities Multiple education In Situ Hybridization Fluorescence Genetics (clinical) Comparative Genomic Hybridization education.field_of_study Chromosomes Human Pair 12 medicine.diagnostic_test Mosaicism business.industry medicine.disease United Kingdom Phenotype Tetrasomy Cohort Medical genetics business Fluorescence in situ hybridization |
| Zdroj: | Journal of Medical Genetics. 52:454-464 |
| ISSN: | 1468-6244 0022-2593 |
| DOI: | 10.1136/jmedgenet-2014-102877 |
| Popis: | Background Pallister-Killian syndrome is a rare, sporadic condition caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). The main features are intellectual disability, seizures, dysmorphic features and a variety of congenital malformations. Most available information comes from individual case reports. We report the results of a British study into Pallister-Killian syndrome, which is the first to provide comprehensive data on a population-based sample. Method A detailed phenotypical study was carried out in Great Britain. All individuals with Pallister-Killian syndrome were eligible to participate. Each participant underwent a structured history, developmental assessment and clinical examination. Buccal mucosal samples were analysed by interphase fluorescence in situ hybridization (FISH) and blood samples by array comparative genomic hybridization (CGH). Genotype-phenotype correlations were sought in these tissues and existing skin biopsy reports. Results Twenty-two patients with Pallister-Killian syndrome, ranging from 4 months to 31 years were recruited and comprehensive data on each obtained. The birth incidence was 5.1 per million live births. Array CGH only suggested the diagnosis in 15.8% but buccal FISH could have made the diagnosis in 75.0%. There was no genotype-phenotype correlation in any of the tissues studied. This study shows that the high birth weights and profound intellectual disability classically described in Pallister-Killian syndrome are not universal. Mild or moderate intellectual disability was present in 27.6% of this cohort and all birth weights were within 2.67SD of the mean. New features which have not previously been recognised as part of Pallister-Killian syndrome include anhydrosis/ hypohydrosis and episodic hyperventilation, suggesting involvement of the autonomic system. |
| Databáze: | OpenAIRE |
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