Physicians and researchers from CHOP and outside collaborators authored five articles on Pallister-Killian syndrome (PKS) for the December 2012 issue of American Journal of Medical Genetics Part A. Covering the genetics and clinical, developmental, behavioral and seizure characteristics of PKS, CHOP specialists shared their expertise in treating children with this rare condition.
Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome. Conlin LK, Kaur M, Izumi K, Campbell L, Wilkens A, Clark D, Deardorff MA, Zackai EH, Pallister P, Hakonarson H, Spinner NB, Krantz ID. Am J Med Genet A. 2012;158A(12):3046-3053.
The SNP array is a traditional cytogenetic test proven to be a useful tool in detecting and characterizing isochromosome 12p, which is associated with Pallister-Killian Syndrome.
Novel clinical manifestations in Pallister-Killian syndrome: Comprehensive evaluation of 59 affected individuals and review of previously reported cases. Wilkens A, Liu H, Park K, Campbell LB, Jackson M, Kostanecka A, Pipan M, Izumi K, Pallister P, Krantz ID. Am J Med Genet A. 2012;158A(12):3002-3017.
PKS can have a wide range of clinical findings. This study reviews the spectrum of clinical manifestations and reports several newly identified characteristics seen in individuals with PKS.
Developmental and behavioral characteristics of individuals with Pallister-Killian syndrome. Kostanecka A, Close LB, Izumi K, Krantz ID, Pipan M. Am J Med Genet A. 2012;158A(12):3018-3025.
The developmental and behavioral characteristics of 16 individuals with PKS were analyzed through questionnaires and direct interviews. Intellectual and sensory impairments can range from mild to profound, and further studies are warranted to determine if there is an increased risk for autism.
Seizure characteristics in Pallister-Killian syndrome. Candee MS, Carey JC, Krantz ID, Filloux FM. Am J Med Genet A. 2012;158A(12):3026-3032.
Seizure and epilepsy patterns were investigated in individuals with PKS. This study examines the average age of onset, frequency and timing, types of seizures, and common medications used in more than 50 patients with PKS.
Duplication 12p and Pallister-Killian syndrome: A case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region. Izumi K, Conlin LK, Berrodin D, Fincher C, Wilkens A, Haldeman-Englert C, Saitta SC, Zackai EH, Spinner NB, Krantz ID. Am J Med Genet A. 2012;158A(12):3033-3045.
PKS is typically caused by two extra short arms of chromosome 12 resulting in tetrasomy 12p, but it can also be caused by certain duplications on the short arm of chromosome 12. This study allowed the identification of the particular region of chromosome 12p that, when altered, is associated with PKS.
Occurrence and clinical features of epileptic and non-epileptic paroxysmal events in five children with Pallister-Killian syndrome. Filloux FM, Carey JC, Krantz ID, Ekstrand JJ, Candee MS. Eur J Med Genet. 2012;55(5):367-373.
This study investigates epileptic and non-epileptic events to better define the occurrence and nature of seizure and epilepsy patterns seen in individuals with PKS.