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Pallister-Killian syndrome: a study of 22 British patients
  1. Moira Blyth1,
  2. Viv Maloney2,
  3. Sarah Beal2,
  4. Morag Collinson2,
  5. Shuwen Huang2,3,
  6. John Crolla2,
  7. I Karen Temple4,5,
  8. Diana Baralle4,5
  1. 1Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK
  2. 2Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK
  3. 3Genomic Diagnostics Laboratory, Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester
  4. 4Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton, UK
  5. 5Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK
  1. Correspondence to Dr Moira Blyth, Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Chapletown Road, Leeds, LS7 4SA, UK; Moira.blyth{at}


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.

  • Chromosomal
  • Clinical genetics

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