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Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission karyotype: 46,XX,-13,+t(13;13)(p11;q11)/46,XX,del(13)(p11)

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Summary

A severely retarded child with multiple malformations was found to present a mosaic karyotype 46,XX,-13,+t(13;13)(p11;q11)/46,XX,del (13)(p11), which probably originated as the result of a de novo 13/13 translocation in a parental gamete, followed by postzygotic fission of the translocation chromosomse.

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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

  2. Department of Pediatrics, Gasthuisberg, Herestraat, B-3000, Leuven, Belgium

    P. Casaer

Authors
  1. J. P. Fryns
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  2. P. Casaer
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  3. H. Van den Berghe
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Fryns, J.P., Casaer, P. & Van den Berghe, H. Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission karyotype: 46,XX,-13,+t(13;13)(p11;q11)/46,XX,del(13)(p11). Hum Genet 46, 237–241 (1979). https://doi.org/10.1007/BF00291927

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  • DOI: https://doi.org/10.1007/BF00291927

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