Are de novo rea(21;21) chromosomes really de novo?

  • Hervé B
  • Quibel T
  • Taieb S
  • et al.
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Abstract

We report a rare case of recurrent trisomy 21 caused by an isochromosome 21q and what is very likely to be maternal germ‐line cell mosaicism. Over 90% of cases of rob(21;21) reported in the literature are due to an isochromosome 21q, with a risk of recurrence of more than 10%.

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Hervé, B., Quibel, T., Taieb, S., Ruiz, M., Molina‐Gomes, D., & Vialard, F. (2015). Are de novo rea(21;21) chromosomes really de novo? Clinical Case Reports, 3(10), 786–789. https://doi.org/10.1002/ccr3.341

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