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Duplication 12p and Pallister–Killian syndrome: A case report and review of the literature toward defining a Pallister–Killian syndrome minimal critical region

Authors

  • Kosuke Izumi,

    1. Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
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  • Laura K. Conlin,

    1. Department of Pathology and The Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
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  • Donna Berrodin,

    1. Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
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  • Christopher Fincher,

    1. Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
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  • Alisha Wilkens,

    1. Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
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  • Chad Haldeman-Englert,

    1. Division of Genetics, Wake Forest University, Winston-Salem, North Carolina
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  • Sulagna C. Saitta,

    1. Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
    2. The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania
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  • Elaine H. Zackai,

    1. Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
    2. The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania
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  • Nancy B. Spinner,

    1. Department of Pathology and The Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
    2. The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania
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  • Ian D. Krantz

    Corresponding author
    1. Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
    2. The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania
    • Division of Human Genetics, 1007-C ARC, The Children's Hospital of Philadelphia, 3615 Civic Center Boulevard, Philadelphia, PA 19104.
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  • How to Cite this Article: Izumi K, Conlin LK, Berrodin D, Fincher C, Wilkens A, Haldeman-Englert C, Saitta SC, Zackai EH, Spinner NB, Krantz ID. 2012. Duplication 12p and Pallister–Killian syndrome: A case report and review of the literature toward defining a Pallister–Killian syndrome minimal critical region. Am J Med Genet Part A 158A: 3033–3045.

Abstract

Pallister–Killian syndrome (PKS) is a multisystem sporadic genetic condition characterized by facial anomalies, variable developmental delay and intellectual impairment, hypotonia, hearing loss, seizures, pigmentary skin differences, temporal alopecia, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities. PKS is typically caused by the presence of a supernumerary isochromosome composed of the short arms of chromosome 12 resulting in tetrasomy 12p, which is often present in a tissue limited mosaic state. The PKS phenotype has also often been observed in individuals with complete or partial duplications of 12p (trisomy 12p rather than tetrasomy 12p) as the result of an interstitial duplication or unbalanced translocation. We have identified a proposita with PKS who has two small de novo interstitial duplications of 12p which, along with a review of previously reported cases, has allowed us to define a minimum critical region for PKS. © 2012 Wiley Periodicals, Inc.

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