Pallister-Killian syndrome: a study of 22 British patients.
J Med Genet
; 52(7): 454-64, 2015 Jul.
Article
in En
| MEDLINE
| ID: mdl-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 4â months to 31â 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.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Phenotype
/
Abnormalities, Multiple
/
Chromosomes, Human, Pair 12
/
Chromosome Disorders
/
Tetrasomy
/
Intellectual Disability
Limits:
Humans
Country/Region as subject:
Europa
Language:
En
Journal:
J Med Genet
Year:
2015
Document type:
Article
Affiliation country: