Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated

Authors

  • Dieter Kotzot,

    Corresponding author
    1. Department of Medical Genetics, Molecular and Clinical Pharmacology, Division of Clinical Genetics, Medical University of Innsbruck, Innsbruck, Austria
    • Department of Medical Genetics, Molecular, and Clinical Pharmacology, Division of Clinical Genetics, Schoepfstr. 41, A-6020 Innsbruck, Austria.
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  • Gerd Utermann

    1. Department of Medical Genetics, Molecular and Clinical Pharmacology, Division of Clinical Genetics, Medical University of Innsbruck, Innsbruck, Austria
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Abstract

Uniparental disomy (UPD) describes the inheritance of a pair of chromosomes from only one parent. The concept was introduced in Medical Genetics by Engel (1980); Am J Med Genet 6:137–143. Aside UPD 15, which is the most frequent one, up to now (February 2005) 197 cases with whole chromosome maternal UPD other than 15 (124 X heterodisomy, 59 X isodisomy, and 14 cases without information of the mode of UPD) and 68 cases with whole chromosome paternal UPD other than 15 (13 X heterdisomy, 53 X isodisomy, and 2 cases without information of the mode of UPD) have been reported. In this review we discuss briefly the problems associated with UPD and provide a comprehensive clinical summary with a bibliography for each UPD other than 15 as a guide for genetic counseling. © 2005 Wiley-Liss, Inc.

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