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  • A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1.

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Research Article
A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1.
  1. R Tupler,
  2. P Maraschio,
  3. A Gerardo,
  4. R Mainieri,
  5. G Lanzi,
  6. L Tiepolo
  1. Biologia Generale e Genetica Medica, University of Pavia, Italy.

    Abstract

    An unbalanced complex chromosome rearrangement with 10 breakpoints resulting in four derivative chromosomes (1, 2, 4, and 11) was found in a girl with severe phenotypic abnormalities, many of which are characteristic of Williams syndrome. The patient was monosomic for the region 4q33----q35.1 and thus the mapping of the syndrome could tentatively be restricted to this region.

    https://doi.org/10.1136/jmg.29.4.253

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