Pallister–Killian syndrome is a rare sporadic cytogenetic abnormality, caused by a tissue-specific mosaic distribution of an additional isochromosome 12p, first described in three adults by Pallister et al. in 1977 (Pallister et al. 1977) and followed by a report of a child by Teschler-Nicola and Killian in 1981 (Teschler-Nicola and Killian 1981). The syndrome is also known as Teschler-Nicola/Killian syndrome, Pallister mosaic aneuploidy syndrome, and isochromosome 12p mosaicism or mosaic tetrasomy 12p (Buyse and Korf 1983). It is the most frequent autosomal tetrasomy in humans (Bresson et al. 1991).
KeywordsDiaphragmatic Hernia Nuchal Translucency Anterior Open Bite Radioulnar Synostosis Gingival Overgrowth
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