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Research Article
Mosaicism for trisomy 3q arising from an unbalanced, de novo t(3;15).
  1. R Stallings,
  2. D Vaughn,
  3. K Hall,
  4. C Joyce,
  5. F Ryan,
  6. D Barton,
  7. M Geraghty
  1. National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.

    Abstract

    We report on a 2 1/2 year old girl who is dysmorphic, developmentally delayed, and mosaic for an unbalanced, de novo translocation between chromosomes 3 and 15. The karyotype from peripheral blood lymphocytes is 46,XX (50) and the karyotype from skin fibroblasts is 46,XX (28)/46,XX,der(15)t(3;15)(q11;p11) (23). The mechanism for the generation of this unbalanced, de novo translocation is discussed.

    https://doi.org/10.1136/jmg.34.6.512

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