Rare case of Killian-Pallister syndrome associated with idiopathic short stature detected with fluorescent in situ hybridization on buccal smear

摘要

BackgroundKillian-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.