Pallister-Killian syndrome: a study of 22 British patients. Issue 7 (17th April 2015)

• Record Type: Journal Article
• Authors: Blyth, Moira; Maloney, Viv; Beal, Sarah; Collinson, Morag; Huang, Shuwen; Crolla, John; Temple, I Karen; Baralle, Diana
• Is Part Of: Journal of medical genetics. Volume 52:Issue 7(2015)
• Page Start: 454
• Page End: 464
• Publication Date: 2015-04-17
• Subjects: Chromosomal -- Clinical genetics; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmedgenet-2014-102877
• Languages: English
• ISSNs: 1468-6244

Abstract

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.