title: Rare case of Killian-Pallister syndrome associated with idiopathic short stature detected with fluorescent in situ hybridization on buccal smear.
abstract: BACKGROUND
  Killian-Pallister syndrome (KPS) is a rare form of chromosomal mosaicism and is defined by the existence of an extra chromosome 12 in some cell lines in one individual. The degree of mosaicism varies among tissues and dictates the clinical presentation of the syndrome. The clinical features of Killian-Pallister syndrome include mental retardation, typical facial dysmorphism and pigmentation defects.
  
  
  METHODS
  We present a rare case of Killian-Pallister syndrome with severe form of the disease associated with isolated growth hormone deficiency and low-rate mosaicism on buccal smear. The absence of a marker chromosome 12p in lymphocyte cultures and the low degree of mosaicism lead to frequent misdiagnosis of this condition.
  
  
  CONCLUSIONS
  The selection of tissue sampling is crucial in establishing the diagnosis of Killian-Pallister syndrome. Fluorescent in situ hybridisation on buccal smear remains the golden standard as a screening method if a suspicion of the syndrome exists.
authors.affiliation: Department of endocrinology and genetics, University Pediatric Clinic, Medical Faculty, Vodnjanska 17, Skopje, 1000 Macedonia.
authors.forename: Elena
authors.initials: E
authors.lastname: Sukarova-Angelovska
authors.affiliation: Department of endocrinology and genetics, University Pediatric Clinic, Medical Faculty, Vodnjanska 17, Skopje, 1000 Macedonia.
authors.forename: Mirjana
authors.initials: M
authors.lastname: Kocova
authors.affiliation: Genetic laboratory, University Pediatric Clinic, Medical Faculty, Vodnjanska 17, Skopje, 1000 Macedonia.
authors.forename: Gordana
authors.initials: G
authors.lastname: Ilieva
authors.affiliation: Department of neurology, University Pediatric Clinic, Medical Faculty, Vodnjanska 17, Skopje, 1000 Macedonia.
authors.forename: Natalija
authors.initials: N
authors.lastname: Angelkova
authors.affiliation: University Pediatric Clinic, Medical Faculty, Vodnjanska 17, Skopje, 1000 Macedonia.
authors.forename: Elena
authors.initials: E
authors.lastname: Kochova
keywords: Buccal smear; Fluorescent in situ hybridisation; Isolated growth hormone deficiency; Killian-Pallister syndrome