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: Kosuke Izumi, Laura K Conlin, Donna Berrodin, Christopher Fincher, Alisha Wilkens, Chad Haldeman-Englert, Sulagna C Saitta, Elaine H Zackai, Nancy B Spinner, Ian D Krantz
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 158A Issue 12 Pg. 3033-45 (Dec 2012) ISSN: 1552-4833 [Electronic] United States
• PMID: 23169682 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2012 Wiley Periodicals, Inc.

Topics

• Chromosome Disorders (diagnosis, genetics)
• Chromosomes, Human, Pair 12 (genetics)
• Female
• Humans
• Infant, Newborn
• Phenotype
• Tetrasomy (diagnosis, genetics)