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Genomic imprinting and human hereditary disorders

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Abstract

Modern data are reviewed that concern hereditary disorders caused by abnormal expression of imprinted genes rather than mutations and structural aberrations. As an example, the molecular organization of the critical chromosomal region 15(q11.2–q13) and the possible pathogenetic mechanisms are described in detail for Prader-Willi and Angelman syndromes.

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  1. Research Center for Medical Genetics, Russian Academy of Medical Sciences, 115478, Moscow, Russia

    M. V. Nemtsova

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Nemtsova, M.V. Genomic imprinting and human hereditary disorders. Mol Biol 34, 554–560 (2000). https://doi.org/10.1007/BF02759564

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