Skip to main content
SpringerLink
Log in

Pallister–Killian Syndrome

  • Living reference work entry
  • First Online:
Atlas of Genetic Diagnosis and Counseling

  • 243 Accesses

Abstract

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).

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution

Institutional subscriptions

References

  • Bagattoni, S., D’Alessandro, G., Sadotti, A., et al. (2016). Oro-dental features of Pallister–Killian syndrome: Evaluation of 21 European probands. American Journal of Medical Genetics. Part A, 9999A, 1–8.

    Google Scholar 

  • Bernert, J., Bartels, I., Gatz, G., et al. (1992). Prenatal diagnosis of the Pallister-Killian mosaic aneuploidy syndrome by CVS. American Journal of Medical Genetics, 42, 747–750.

    Article  CAS  PubMed  Google Scholar 

  • Blyth, M., Maloney, V., Beal, S., et al. (2015). Pallister-Killian syndrome: A study of 22 British patients. Journal of Medical Genetics, 52, 454–464.

    Article  CAS  PubMed  Google Scholar 

  • Bresson, J. L., Arbez-Gindre, F., Peltie, J., et al. (1991). Pallister Killian-mosaic tetrasomy 12 p syndrome. Another prenatally diagnosed case. Prenatal Diagnosis, 11, 271–275.

    Article  CAS  PubMed  Google Scholar 

  • Bulter, M. G., & Dev, V. G. (1995). Pallister-Killian syndrome detected by fluorescence in situ hybridization. American Journal of Medical Genetics, 57, 498–500.

    Article  CAS  PubMed  Google Scholar 

  • Buyse, M. L., & Korf, B. R. (1983). “Killian syndrome”, Pallister mosaic syndrome, or mosaic tetrasomy 12P? – An analysis. The Journal of Clinical Dysmorphology, 1, 2–5.

    CAS  PubMed  Google Scholar 

  • Chiesa, J., Hoffet, M., Rousseau, O., et al. (1998). Pallister-Killian syndrome [i(12p)]: First pre-natal diagnosis using cordocentesis in the second trimester confirmed by in situ hybridization. Clinical Genetics, 54, 294–302.

    Article  CAS  PubMed  Google Scholar 

  • Conlin, L. K., Kaur, M., Izumi, K., et al. (2012). Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister–Killian syndrome. American Journal of Medical Genetics. Part A, 158A, 3046–3053.

    Article  PubMed  Google Scholar 

  • Costa, L. S., Zandona-Teixeira, A. C., Montenegro, M. M., et al. (2015). Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome. Molecular Cytogenetics, 8, 1–7.

    Article  Google Scholar 

  • Doray, B., Girard-Lemaire, F., Gasser, B., et al. (2002). Pallister-Killian syndrome: Difficulties of prenatal diagnosis. Prenatal Diagnosis, 22, 470–477.

    Article  PubMed  Google Scholar 

  • Fujiki, K., Shirahige, K., Kaur, M., et al. (2016). Mosaic ratio quantification of isochromosome 12p in Pallister–Killian syndrome using droplet digital PCR. Molecular Genetics & Genomic Medicine, 4, 257–261.

    Article  CAS  Google Scholar 

  • Genevieve, D., Cormier-Daire, V., Sanlaville, D., et al. (2003). Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome. American Journal of Medical Genetics, 116A, 90–93.

    Article  CAS  PubMed  Google Scholar 

  • Hall, B. D. (1985). Mosaic tetrasomy 21 is mosaic tetrasomy 12p some of the time. Clinical Genetics, 27, 284–286.

    Article  CAS  PubMed  Google Scholar 

  • Hodge, J. C., Hulshizer, R. L., Seger, P., et al. (2012). Array CGH on unstimulated blood does not detect all cases of Pallister–Killian syndrome: A skin biopsy should remain the diagnostic gold standard. American Journal of Medical Genetics. Part A, 158A, 669–673.

    Article  PubMed  Google Scholar 

  • Horneff, G., Majewski, F., Hildebrand, B., et al. (1993). Pallister-Killian syndrome in older children and adolescents. Pediatric Neurology, 9, 312–315.

    Article  CAS  PubMed  Google Scholar 

  • Hunter, A. G., Clifford, B., & Cox, D. M. (1985). The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian syndrome. Clinical Genetics, 28, 47–53.

    Article  CAS  PubMed  Google Scholar 

  • Izumi, K., & Krantz, I. D. (2014). Pallister-Killian syndrome. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 166C, 406–413.

    Article  PubMed  Google Scholar 

  • Jamuar, S., Lai, A., Unger, S., et al. (2012). Clinical and radiological findings in Pallister-Killian syndrome. European Journal of Medical Genetics, 55, 167–172.

    Article  PubMed  Google Scholar 

  • Kostanecka, A., Close, L. B., Izumi, K., et al. (2012). Developmental and behavioral characteristics of individuals with Pallister–Killian syndrome. American Journal of Medical Genetics. Part A, 158A, 3018–3025.

    Article  PubMed  Google Scholar 

  • Liberati, M., Melchiorre, K., D’Emilio, I., et al. (2008). Fetal facial profile in Pallister-Killian syndrome. Fetal Diagnosis and Therapy, 23, 15–17.

    Article  PubMed  Google Scholar 

  • Mathieu, M., Piussan, C., Thepot, F., et al. (1997). Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children). Annales de Génétique, 40, 45–54.

    CAS  PubMed  Google Scholar 

  • Pallister, P. D., Meisner, L. F., Elejalde, B. R., et al. (1977). The Pallister mosaic syndrome. Birth Defects Original Article Series, XIII(3B), 103–110.

    Google Scholar 

  • Peltomaki, P., Knuutila, S., Ritvanen, A., et al. (1987). Pallister-Killian syndrome: Cytogenetic and molecular studies. Clinical Genetics, 31, 399–405.

    Article  CAS  PubMed  Google Scholar 

  • Quarrell, O. W., Hamill, M. A., & Hughes, H. E. (1988). Pallister-Killian mosaic syndrome with emphasis on the adult phenotype. American Journal of Medical Genetics, 31, 841–844.

    Article  CAS  PubMed  Google Scholar 

  • Reynolds, J. F., Daniel, A., Kelly, T. E., et al. (1987). Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): Report of 11 cases. American Journal of Medical Genetics, 27, 257–274.

    Article  CAS  PubMed  Google Scholar 

  • Saito, Y., Masuko, K., Kaneko, K., et al. (2006). Brain MRI findings of older patients with Pallister-Killian syndrome. Brain & Development, 28, 34–38.

    Article  Google Scholar 

  • Schinzel, A. (1991). Tetrasomy 12p (Pallister-Killian syndrome). Journal of Medical Genetics, 28, 122–125.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Shivashankar, L., Whitney, E., Colmorgen, C., et al. (1988). Prenatal diagnosis of tetrasomy 47, XY,+i(12p) confirmed by in situ hybridization. Prenatal Diagnosis, 8, 85–91.

    Article  CAS  PubMed  Google Scholar 

  • Soukup, S., & Neidich, K. (1990). Prenatal diagnosis of Pallister-Killian syndrome. American Journal of Medical Genetics, 35, 526–528.

    Article  CAS  PubMed  Google Scholar 

  • Speleman, F., Leroy, J. G., Van Roy, N., et al. (1991). Pallister-Killian syndrome: Characterization of the isochromosome 12p by fluorescent in situ hybridization. American Journal of Medical Genetics, 41, 381–387.

    Article  CAS  PubMed  Google Scholar 

  • Srinivasan, A., & Wright, D. (2014). Pallister-Killian syndrome. The American Journal of Case Reports, 15, 194–198.

    Article  PubMed  PubMed Central  Google Scholar 

  • Teschler-Nicola, M., & Killian, W. (1981). Case report 72: Mental retardation, unusual facial appearance, abnormal hair. Syndrome Identification, 7, 6–7.

    Google Scholar 

  • Tilton, R. K., Wilkens, A., Krantz, I. D., et al. (2014). Cardiac manifestations of Pallister-Killian syndrome. American Journal of Medical Genetics Part A, 164A, 1130–1135.

    Article  PubMed  Google Scholar 

  • Theisen, A., Rosenfeld, J. A., Farrell, S. A., et al. (2009). aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy. American Journal of Medical Genetics. Part A, 149A, 914–918.

    Article  PubMed  Google Scholar 

  • Van Opstal, D., Boter, M., Noomen, P., et al. (2011). Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis. Molecular Cytogenetics, 4, 1–7.

    Article  Google Scholar 

  • Warburton, D., Anyana-Yeboa, K., & Francke, U. (1988). Mosaic tetrasomy 12p: Four new cases, and confirmation of the chromosomal origin of supernumerary chromosome in one of the original Pallister-mosaic syndrome cases. American Journal of Medical Genetics, 27, 275–283.

    Article  Google Scholar 

  • Wenger, S. L., Steele, M. W., & Yu, W.-D. (1988). Risk effect of maternal age in Pallister i(12p) syndrome. Clinical Genetics, 34, 181–184.

    Article  CAS  PubMed  Google Scholar 

  • Wilkens, A., Liu, H., Park, K., et al. (2012). Novel clinical manifestations in Pallister–Killian syndrome: Comprehensive evaluation of 59 affected individuals and review of previously reported cases. American Journal of Medical Genetics. Part A, 158A, 3002–3017.

    Article  PubMed  Google Scholar 

  • Yeung, A., Francis, D., Giouzeppos, D., et al. (2009). Pallister-Killian syndrome caused by mosaicism for a supernumerary ring chromosome 12p. American Journal of Medical Genetics. Part A, 149A, 505–509.

    Article  CAS  PubMed  Google Scholar 

  • Young, I. D., Duckett, D. P., & O’Reilly, K. M. (1989). Lethal presentation of mosaic tetrasomy 12p (Pallister-Killian) syndrome. Annales de Génétique, 32, 62–64.

    CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Shreveport, LA, USA

    Harold Chen

  2. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

Authors
  1. Harold Chen
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Harold Chen .

Rights and permissions

Reprints and permissions

Copyright information

© 2016 Springer Science+Business Media New York

About this entry

Cite this entry

Chen, H. (2016). Pallister–Killian Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_190-2

Download citation

  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_190-2

  • Received:

  • Accepted:

  • Published:

  • Publisher Name: Springer, New York, NY

  • Online ISBN: 978-1-4614-6430-3

  • eBook Packages: Springer Reference Biomedicine and Life SciencesReference Module Biomedical and Life Sciences

Publish with us

Policies and ethics

Search

Navigation