Apparent monosomy 21 owing to a ring 21 chromosome: parental origin revealed by DNA analysis.

@article{Dalgleish1988ApparentM2,
  title={Apparent monosomy 21 owing to a ring 21 chromosome: parental origin revealed by DNA analysis.},
  author={Raymond Dalgleish and David P. Duckett and M A Woodhouse and Rosemary S Shannon and Ian D. Young},
  journal={Journal of medical genetics},
  year={1988},
  volume={25 12},
  pages={851-4}
}
A three and a half year old mildly retarded boy is presented. Karyotyping showed monosomy 21 (45,XY,-21) in all 50 metaphase spreads examined from two lymphocyte cultures, and in 20% of cells examined from cultured fibroblasts; the remaining 80% of cells showed a ring 21 chromosome (46,XY,r(21)(p1q22]. Molecular studies using chromosome 21 specific DNA probes confirmed the monosomy in blood and showed that the ring 21 chromosome was paternal in origin. Parental karyotypes were normal. 

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