title: Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome.
abstract: BACKGROUND
  Pallister-Killian syndrome (PKS) is a sporadic genetic disorder caused by the presence of a tissue-specific mosaicism for isochromosome 12p - i(12) (p10) and is characterized by facial dysmorphism including coarse facies, upslanting palpebral fissures, bitemporal alopecia, pigmentary skin anomalies, developmental delay, hypotonia and seizures. Although typical clinical features of PKS commonly exist, clinicians often do not raise the possibility of this diagnosis.
  
  
  RESULTS
  We reviewed the medical records of 10 patients with confirmed PKS followed in our service (since 1990 to 2015). Age at diagnosis varied from prenatal to 3 years and clinical features were consistent with those described in the literature. In all patients, peripheral blood karyotypes were normal and cytogenomic study was performed in order to confirm the diagnosis. Three of these patients had PKS diagnosis confirmed by buccal smear MLPA.
  
  
  CONCLUSIONS
  An early conclusion from our results demonstrated that MLPA on buccal smears is a good and non-invasive method to detect extra copies of 12p and should be considered as the first exam, before a skin biopsy for a fibroblast karyotype is performed.
authors.affiliation: Unidade de Genética, Departamento de Pediatria, Instituto da Criança-HCFMUSP, Universidade de São Paulo, São Paulo, Brasil.
authors.forename: Larissa Sampaio de Athayde
authors.initials: LS
authors.lastname: Costa
authors.affiliation: Laboratório de Citogenômica, LIM 03, Departamento de Patologia, Faculdade de Medicina da Universidade de São Paulo- HCFMUSP, São Paulo, Brasil ; Unidade de Genética, Departamento de Pediatria, Instituto da Criança-HCFMUSP, Universidade de São Paulo, São Paulo, Brasil.
authors.forename: Aline C
authors.initials: AC
authors.lastname: Zandona-Teixeira
authors.affiliation: Laboratório de Citogenômica, LIM 03, Departamento de Patologia, Faculdade de Medicina da Universidade de São Paulo- HCFMUSP, São Paulo, Brasil ; Unidade de Genética, Departamento de Pediatria, Instituto da Criança-HCFMUSP, Universidade de São Paulo, São Paulo, Brasil.
authors.forename: Marilia M
authors.initials: MM
authors.lastname: Montenegro
authors.affiliation: Laboratório de Citogenômica, LIM 03, Departamento de Patologia, Faculdade de Medicina da Universidade de São Paulo- HCFMUSP, São Paulo, Brasil.
authors.forename: Alexandre T
authors.initials: AT
authors.lastname: Dias
authors.affiliation: Laboratório de Citogenômica, LIM 03, Departamento de Patologia, Faculdade de Medicina da Universidade de São Paulo- HCFMUSP, São Paulo, Brasil ; Unidade de Genética, Departamento de Pediatria, Instituto da Criança-HCFMUSP, Universidade de São Paulo, São Paulo, Brasil.
authors.forename: Roberta L
authors.initials: RL
authors.lastname: Dutra
authors.affiliation: Unidade de Genética, Departamento de Pediatria, Instituto da Criança-HCFMUSP, Universidade de São Paulo, São Paulo, Brasil.
authors.forename: Rachel S
authors.initials: RS
authors.lastname: Honjo
authors.affiliation: Unidade de Genética, Departamento de Pediatria, Instituto da Criança-HCFMUSP, Universidade de São Paulo, São Paulo, Brasil.
authors.forename: Debora R
authors.initials: DR
authors.lastname: Bertola
authors.affiliation: Laboratório de Citogenômica, LIM 03, Departamento de Patologia, Faculdade de Medicina da Universidade de São Paulo- HCFMUSP, São Paulo, Brasil ; Unidade de Genética, Departamento de Pediatria, Instituto da Criança-HCFMUSP, Universidade de São Paulo, São Paulo, Brasil.
authors.forename: Leslie D
authors.initials: LD
authors.lastname: Kulikowski
authors.affiliation: Unidade de Genética, Departamento de Pediatria, Instituto da Criança-HCFMUSP, Universidade de São Paulo, São Paulo, Brasil.
authors.forename: Chong A
authors.initials: CA
authors.lastname: Kim
keywords: Buccal smear; MLPA; Pallister-Killian syndrome; isochromosome 12p