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Apparent homozygosity for the fragile site at Xq28 in a normal female

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Summary

A 29-year-old obligate carrier for X-linked mental retardation associated with the marker X, fra(X)(q28), showed the fragile site on both X chromosomes in two cells from independent cultures grown with methotrexate. Possible explanations include true homozygosity, artifact, and transposition of the fragile site.

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Authors and Affiliations

  1. The John F. Kennedy Institute, DK-2600, Glostrup, Denmark

    Karen Brøndum Nielsen, Niels Tommerup, Hanne Poulsen & Margareta Mikkelsen

Authors
  1. Karen Brøndum Nielsen
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  2. Niels Tommerup
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  3. Hanne Poulsen
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  4. Margareta Mikkelsen
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Nielsen, K.B., Tommerup, N., Poulsen, H. et al. Apparent homozygosity for the fragile site at Xq28 in a normal female. Hum Genet 61, 60–62 (1982). https://doi.org/10.1007/BF00291334

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  • DOI: https://doi.org/10.1007/BF00291334

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