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Satellited Y chromosomes: Structure, origin, and clinical significance

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Summary

Three cases of inherited satellited Y chromosomes (Yqs) were analysed using several cytogenetic techniques. The cytogenetic data of the 14 cases of Yqs chromosomes described to date were reviewed. All Yqs chromosomes carry an active nucleolus organizer region (NOR) in their long arm and must have developed from translocations involving the short arms of the acrocentric autosomes. The structure of the heterochromatic satellite region in the Yqs chromosomes shows conspicuous inter-familial differences; this permits the reconstruction of the translocations from which the various Yqs were derived. Some causal factors leading to the development of Yqs chromosomes are considered: the specific localization of the four satellite DNAs and highly methylated DNA sequences in the karyotype, and some new experimental data on the spatial arrangement of heterochromatic regions in interphase nuclei. These provide distinct evidence for a preferential involvement of the autosomes 15 and 22 in the translocations with the Y heterochromatin. All clinical reports documenting Yqs males born with malformations were reviewed. It appears that the presence of an extra NOR and NOR-associated heterochromatin in the Yqs chromosomes does not cause any phenotypic abnormalities (as long as the Y euchromatin is intact). The possibility that a Yqs chromosome predisposes to non-disjunction and/or to translocations of other chromosomes is discussed.

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Authors and Affiliations

  1. Institut für Humangenetik, Universität Würzburg, Koellikerstr, 2, D-8700, Würzburg, Federal Republic of Germany

    M. Schmid, T. Haaf & Eva Solleder

  2. Institut für Humangenetik, Universität Freiburg, Albertstr. 11, D-7800, Freiburg i. Br., Federal Republic of Germany

    W. Schempp

  3. Institut für Humangenetik, Universität Göttingen, Nikolausberger Weg 5a, D-3400, Gottingen, Federal Republic of Germany

    M. Leipoldt

  4. Institut für Humangenetik, Universität Tübingen, Wilhelmstr.27, D-7400, Tubingen, Federal Republic of Germany

    H. Heilbronner

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  1. M. Schmid
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  2. T. Haaf
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  3. Eva Solleder
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  4. W. Schempp
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  5. M. Leipoldt
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Schmid, M., Haaf, T., Solleder, E. et al. Satellited Y chromosomes: Structure, origin, and clinical significance. Hum Genet 67, 72–85 (1984). https://doi.org/10.1007/BF00270562

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  • DOI: https://doi.org/10.1007/BF00270562

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