Pallister-Killian syndrome: a study of 22 British patients
Pallister-Killian syndrome: a study of 22 British patients
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
454-464
Blyth, M.
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Maloney, V.
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Beal, S.
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Collinson, M.
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Huang, S.
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Crolla, J.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Temple, I. K.
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Baralle, D.
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July 2015
Blyth, M.
6d9f76d3-310c-4fda-9890-abcf46c8c62d
Maloney, V.
07e33c11-8048-490b-b93f-ae53f878d002
Beal, S.
8482d461-d637-4a0d-b2db-6775979b13ad
Collinson, M.
3941a8b6-83e6-4350-a8ef-a3331ec5ba44
Huang, S.
a8beb2a3-8e04-4d81-b6b8-453af8791721
Crolla, J.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Temple, I. K.
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Baralle, D.
faac16e5-7928-4801-9811-8b3a9ea4bb91
Blyth, M., Maloney, V., Beal, S., Collinson, M., Huang, S., Crolla, J., Temple, I. K. and Baralle, D.
(2015)
Pallister-Killian syndrome: a study of 22 British patients.
Journal of Medical Genetics, 52 (7), .
(doi:10.1136/jmedgenet-2014-102877).
(PMID:25888713)
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
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Accepted/In Press date: 24 March 2015
e-pub ahead of print date: 17 April 2015
Published date: July 2015
Organisations:
Human Development & Health
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Local EPrints ID: 376403
URI: http://eprints.soton.ac.uk/id/eprint/376403
ISSN: 0022-2593
PURE UUID: adaab995-1c47-4eef-8662-dcf4814e122a
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Date deposited: 27 Apr 2015 11:00
Last modified: 15 Mar 2024 03:30
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Author:
M. Blyth
Author:
V. Maloney
Author:
S. Beal
Author:
M. Collinson
Author:
S. Huang
Author:
J. Crolla
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