Pallister–Killian Syndrome

Living reference work entry


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).


Diaphragmatic Hernia Nuchal Translucency Anterior Open Bite Radioulnar Synostosis Gingival Overgrowth 
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Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  1. 1.Medical GeneticsShriners Hospitals for ChildrenShreveportUSA
  2. 2.Perinatal and Clinical Genetics, Department of PediatricsLSU Health Sciences CenterShreveportUSA

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