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Studies of mitotic and centromeric abnormalities in Roberts syndrome: Implications for a defect in the mitotic mechanism

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Abstract

Roberts syndrome is an inherited human condition that is of particular interest because separation of centromeres and constitutive heterochromatin is observed in metaphase chromosomes. In this study we investigated the frequency of other cytological abnormalities in three Roberts syndrome patients. Our findings when taken with previous cytological reports emphasize that there are other features that are equally characteristic of Roberts syndrome: (1) aneuploidy with random chromosome loss and (2) micronuclei and/or nuclear lobulations of 8%–24% of interphase cells. We observed abnormal chromosome movement involving one or all the chromosomes during anaphase. Evidence is presented suggesting that aneuploidy, micronuclei and abnormal nuclear morphology are a direct result of lagging chromosomes. The cytological features documented for Roberts syndrome indicate that this is a human mitotic mutant.

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Authors and Affiliations

  1. Center for Medical Genetics, Department of Pediatrics, The Johns Hopkins University, 21205, Baltimore, MD, USA

    Ethylin Wang Jabs

  2. Department of Gynecology and Obstetrics, The Johns Hopkins University, 21205, Baltimore, MD, USA

    Cathy M. Tuck-Muller

  3. Department of Medical Biochemistry and Anatomy, The University of Calgary, Calgary, Alberta, Canada

    Ronald Cusano & J. B. Rattner

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  1. Ethylin Wang Jabs
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  2. Cathy M. Tuck-Muller
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  3. Ronald Cusano
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  4. J. B. Rattner
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by T.C. Hsu

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Jabs, E.W., Tuck-Muller, C.M., Cusano, R. et al. Studies of mitotic and centromeric abnormalities in Roberts syndrome: Implications for a defect in the mitotic mechanism. Chromosoma 100, 251–261 (1991). https://doi.org/10.1007/BF00344159

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