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Research Article
An unusual case of mosaic Down's syndrome involving two different Robertsonian translocations.
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  1. M J Clarke,
  2. D A Thomson,
  3. M J Griffiths,
  4. J G Bissenden,
  5. A Aukett,
  6. J L Watt
  1. Regional Cytogenetics Unit, Birmingham Maternity Hospital, Edgbaston.

    Abstract

    A baby girl with some of the stigmata of Down's syndrome was found to be a mosaic with three different cell lines: 45,XX,-13,-21,+t(13q21q)/(46,XX/46,XX, -21,+t(21q21q). The chromosome rearrangements detected in this patient appear to have arisen de novo. In the normal cell line the terminal end of the p arm of one chromosome 21 is thought to have been damaged. It seems probable that this is related to the other chromosomal anomalies found.

    http://dx.doi.org/10.1136/jmg.26.3.198

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