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Supernumerary small ring chromosome

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Summary

The chromosome analysis of a 10-year-old boy with the clinical symptoms of cheilo-palato-gnatho-schisis and debility revealed an extra small chromosome fragment in most of his cells. Mosaicism of karyotypes has led to the suggestion that the extra chromosome could be a minute ring chromosome. The occurrence of anaphase bridges and micronuclei gave the further evidence of the ring nature of this extra chromosome.

Because of its minuteness, the origin of the extra chromosome was not determinable. A comparison of clinical symptoms with those of other known trisomy syndromes is not feasible.

Due to the special behavior of the ring chromosome resulting in its gradual elimination, it is supposed that the percentage of euploid cells increases at the same rate.

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Hoo, J.J., Förster, C., Kindermann, I. et al. Supernumerary small ring chromosome. Hum Genet 25, 17–28 (1974). https://doi.org/10.1007/BF00281003

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  • DOI: https://doi.org/10.1007/BF00281003

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