title: Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region.
abstract: Pallister-Killian syndrome (PKS) is a multisystem sporadic genetic condition characterized by facial anomalies, variable developmental delay and intellectual impairment, hypotonia, hearing loss, seizures, pigmentary skin differences, temporal alopecia, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities. PKS is typically caused by the presence of a supernumerary isochromosome composed of the short arms of chromosome 12 resulting in tetrasomy 12p, which is often present in a tissue limited mosaic state. The PKS phenotype has also often been observed in individuals with complete or partial duplications of 12p (trisomy 12p rather than tetrasomy 12p) as the result of an interstitial duplication or unbalanced translocation. We have identified a proposita with PKS who has two small de novo interstitial duplications of 12p which, along with a review of previously reported cases, has allowed us to define a minimum critical region for PKS.
authors.affiliation: Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
authors.forename: Kosuke
authors.initials: K
authors.lastname: Izumi
authors.forename: Laura K
authors.initials: LK
authors.lastname: Conlin
authors.forename: Donna
authors.initials: D
authors.lastname: Berrodin
authors.forename: Christopher
authors.initials: C
authors.lastname: Fincher
authors.forename: Alisha
authors.initials: A
authors.lastname: Wilkens
authors.forename: Chad
authors.initials: C
authors.lastname: Haldeman-Englert
authors.forename: Sulagna C
authors.initials: SC
authors.lastname: Saitta
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
authors.forename: Nancy B
authors.initials: NB
authors.lastname: Spinner
authors.forename: Ian D
authors.initials: ID
authors.lastname: Krantz
mesh_terms: D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics*; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D058670:Tetrasomy / Q000175:diagnosis / Q000235:genetics