PMID- 25888713
OWN - NLM
STAT- MEDLINE
DCOM- 20160315
LR  - 20220321
IS  - 1468-6244 (Electronic)
IS  - 0022-2593 (Linking)
VI  - 52
IP  - 7
DP  - 2015 Jul
TI  - Pallister-Killian syndrome: a study of 22 British patients.
PG  - 454-64
LID - 10.1136/jmedgenet-2014-102877 [doi]
AB  - 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.
CI  - 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.
FAU - Blyth, Moira
AU  - Blyth M
AD  - Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK.
FAU - Maloney, Viv
AU  - Maloney V
AD  - Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK.
FAU - Beal, Sarah
AU  - Beal S
AD  - Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK.
FAU - Collinson, Morag
AU  - Collinson M
AD  - Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK.
FAU - Huang, Shuwen
AU  - Huang S
AD  - Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK 
      Genomic Diagnostics Laboratory, Manchester Centre for Genomic Medicine, Saint 
      Mary's Hospital, Manchester.
FAU - Crolla, John
AU  - Crolla J
AD  - Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK.
FAU - Temple, I Karen
AU  - Temple IK
AD  - Human Development and Health Academic Unit, Faculty of Medicine, University of 
      Southampton, Southampton, UK Wessex Clinical Genetics Service, Princess Anne 
      Hospital, Southampton, UK.
FAU - Baralle, Diana
AU  - Baralle D
AD  - Human Development and Health Academic Unit, Faculty of Medicine, University of 
      Southampton, Southampton, UK Wessex Clinical Genetics Service, Princess Anne 
      Hospital, Southampton, UK.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20150417
PL  - England
TA  - J Med Genet
JT  - Journal of medical genetics
JID - 2985087R
RN  - Pallister Killian syndrome
SB  - IM
MH  - Abnormalities, Multiple/*genetics/pathology
MH  - Chromosome Disorders/*epidemiology/genetics/pathology
MH  - Chromosomes, Human, Pair 12/*genetics
MH  - Comparative Genomic Hybridization
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/*genetics/pathology
MH  - Mosaicism
MH  - *Phenotype
MH  - Tetrasomy/genetics/*pathology
MH  - United Kingdom/epidemiology
OTO - NOTNLM
OT  - Chromosomal
OT  - Clinical genetics
EDAT- 2015/04/19 06:00
MHDA- 2016/03/16 06:00
CRDT- 2015/04/19 06:00
PHST- 2014/11/06 00:00 [received]
PHST- 2015/03/24 00:00 [accepted]
PHST- 2015/04/19 06:00 [entrez]
PHST- 2015/04/19 06:00 [pubmed]
PHST- 2016/03/16 06:00 [medline]
AID - jmedgenet-2014-102877 [pii]
AID - 10.1136/jmedgenet-2014-102877 [doi]
PST - ppublish
SO  - J Med Genet. 2015 Jul;52(7):454-64. doi: 10.1136/jmedgenet-2014-102877. Epub 2015 
      Apr 17.