title: [Three cases of Pallister-Killian syndrome].
abstract: BACKGROUND
  Pallister-Killian syndrome is characterised by intellectual disability, hypotonia, motor disability and a characteristic phenotype in which notable features include a rugged-looking face, alterations affecting the pigmentation of the skin and bitemporal alopecia. It is often associated with seizures and malformations in other organs and systems. The main cause is mosaicism for tetrasomy of chromosome 12p.
  
  
  METHODS
  We present three new paediatric cases of this rare entity, its clinical features are described and a literature review is carried out.
  
  
  CONCLUSIONS
  It is important to be familiar with the syndrome so that it can be diagnosed, since what commonly happens is that, without performing a skin biopsy or buccal smear, the chromosomal abnormality goes undetected if the classic cytogenetic techniques are used. Nowadays, the diagnosis can be performed in blood by means of CGH-array or SNP-array, although the chances of finding the chromosomal anomaly depend on the percentage of mosaicism.
authors.affiliation: Hospital Materno-Infantil de las Palmas de Gran Canarias, 35016 Las Palmas de Gran Canaria, Espana.
authors.forename: Laura
authors.initials: L
authors.lastname: Toledo-Bravo de Laguna
authors.forename: Miguel
authors.initials: M
authors.lastname: del Campo-Casanelles
authors.forename: Alfredo
authors.initials: A
authors.lastname: Santana-Rodriguez
authors.forename: Alexandre
authors.initials: A
authors.lastname: Santana-Artiles
authors.forename: Irma
authors.initials: I
authors.lastname: Sebastian-Garcia
authors.forename: José Carlos
authors.initials: JC
authors.lastname: Cabrera-Lopez
mesh_terms: D000505:Alopecia / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D004827:Epilepsy / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D018404:Isochromosomes; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D010859:Pigmentation Disorders / Q000235:genetics; D058670:Tetrasomy