Pallister-Killian syndrome: a study of 22 British patients.

Abstract

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.

• Authors: Moira Blyth, Viv Maloney, Sarah Beal, Morag Collinson, Shuwen Huang, John Crolla, I Karen Temple, Diana Baralle
• Journal: Journal of medical genetics (J Med Genet) Vol. 52 Issue 7 Pg. 454-64 (Jul 2015) ISSN: 1468-6244 [Electronic] England
• PMID: 25888713 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Topics

• Abnormalities, Multiple (genetics, pathology)
• Chromosome Disorders (epidemiology, genetics, pathology)
• Chromosomes, Human, Pair 12 (genetics)
• Comparative Genomic Hybridization
• Humans
• In Situ Hybridization, Fluorescence
• Intellectual Disability (genetics, pathology)
• Mosaicism
• Phenotype
• Tetrasomy (genetics, pathology)
• United Kingdom (epidemiology)