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Ring chromosome 22 in a mentally retarded child and mosaic 45,XX,-15,-22,+t(15;22)(p11;q11)/ 46,XX,r(22)/46,XX karyotype in the mother

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Summary

A ring chromosome 22 is described in a 6-year-old mentally retarded boy, who presented a dysmorphic syndrome. The ring chromosome 22 was inherited from the mother, in whom a 46,XX/46,XX,r(22)/45,XY,-15,-22,+t(15;22)(p11;q11) mosaic karyotype was found, indicating a high degree of instability of the chromosome(s) 22 in this woman.

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References

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Authors and Affiliations

  1. Division of Human Genetics, Department of Human Biology, Minderbroedersstraat, 12, B-3000, Leuven, Belgium

    J. P. Fryns & H. Van den Berghe

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  1. J. P. Fryns
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  2. H. Van den Berghe
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Fryns, J.P., Van den Berghe, H. Ring chromosome 22 in a mentally retarded child and mosaic 45,XX,-15,-22,+t(15;22)(p11;q11)/ 46,XX,r(22)/46,XX karyotype in the mother. Hum Genet 47, 213–216 (1979). https://doi.org/10.1007/BF00273205

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  • DOI: https://doi.org/10.1007/BF00273205

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