Pallister-Killian syndrome: a study of 22 British patients

Abstract

Twenty-two patients with Pallister-Killian syndrome, ranging from 4 months to 31 years were recruited and comprehensive data on each obtained. The birth incidence was 5.1 per million live births. Array CGH only suggested the diagnosis in 15.8% but buccal FISH could have made the diagnosis in 75.0%. There was no genotype-phenotype correlation in any of the tissues studied. This study shows that the high birth weights and profound intellectual disability classically described in Pallister-Killian syndrome are not universal. Mild or moderate intellectual disability was present in 27.6% of this cohort and all birth weights were within 2.67SD of the mean. New features which have not previously been recognised as part of Pallister-Killian syndrome include anhydrosis/hypohydrosis and episodic hyperventilation, suggesting involvement of the autonomic system.

Epilepsy genetics: Current knowledge, applications, and future directions

“…Pallister‐Killian syndrome is another example that may require a karyotype for diagnosis. Individuals are dysmorphic, severely delayed and hypotonic . They can present between the ages of 2 and 3 years with myoclonic, generalized tonic‐clonic, or tonic seizures .…”

Pallister‐Killian syndrome: Review of fetal phenotype

“…Maternal age was more than 35 years of age (range 28-44 years, Table 1) in the majority of cases reported earlier 3,6,9,[12][13][14][15]19,20 It is unclear exactly when or why the isochromosome arises but the primary error has been proven to be prezygotic and is of maternal origin. 4 Wenger et al reviewed parental ages from published case reports and showed a link between increasing parental age and the risk of Pallister-Killian syndrome. 22 The authors suggested, but were unable to prove, that this is due to maternal, rather than paternal age.…”

“…It is a rare chromosomal aneuploidy. The birth incidence is about 5.1 per million live births as reported by Blyth et al Clinically, PKS is characterized by coarse facies, hypotonia, intellectual disability, diaphragmatic hernia, seizures, cataracts, congenital heart defects, pigmentary skin changes and other systemic abnormalities.…”

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

“…Indeed, in a number of cases of trisomy rescue (Butler et al., ; Chantot‐Bastaraud et al., ) a mat‐MII error has been documented. Similarly, the mechanism leading to the formation of the supernumerary i(12p), associated with Pallister‐Killian syndrome, has been proven to be prezygotic and of maternal origin, presumably occurring at MII as demonstrated by the presence of three genotypes at the distal 12p region and only two at the pericentromeric one (Blyth et al., ; Conlin et al., ). The only case not compatible with a maternal meiotic nondisjunction is sSMC8.b, whose haplotype was paternal while the normal homologs were biparental (Table , , , and ).…”