INTRODUCTIONPallister‐Killian syndrome (PKS) is a rare, sporadic disorder caused by mosaic tetrasomy 12p and characterized by a supernumerary isochromosome, comprising two short arms of chromosome 12 (OMIM# 601803) (Izumi & Krantz, ; Srinivasan & Wright, ; Wenger, Boone, & Steele, ). Rarely, individuals may have partial or complete duplications of 12p and present with a PKS phenotype (Izumi et al., ). Individuals with PKS display distinct facial anomalies (prominent forehead with spared temporal hair, broad nasal bridge, hypertelorism, wide mouth), variable developmental delay and intellectual impairment, hypotonia, seizures, pigmentary skin differences, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities (Izumi et al., ; Pallister et al., ). Presently, neurological impairments in PKS are anecdotally documented, yet a quantitative assessment of the spectrum of brain abnormalities which could be informative for prognosticating neurodevelopmental outcomes. Here, we describe two probands with PKS with accompanying structural brain abnormalities. We present our findings together with a literature survey of brain abnormalities reported for PKS. We highlight minimal critical regions on 12p and their candidate genes relevant to brain development and disease. Given the mosaic nature of PKS, our findings also serve to raise the index of suspicion for assessment of this syndrome in children with
Molecular Genetics & Genomic Medicine – Wiley
Published: Jan 1, 2018
Keywords: ; ; ;
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