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Ring 18 mosaicism in identical twins

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Summary

Male identical twins with r(18)/normal mosaicism are reported. Twin 1 has the characteristic manifestations of the r(18) syndrome, but twin 2 shows a normal phenotype. Cytogenetic study of cultured lymphocytes revealed that the proportions of r(18) are 19.7% and 19.2%, respectively. However in the fibroblast cultures, the ring is observed in 51% of cells in twin 1 and in 0% in twin 2. The mechanism of the occurrence of the discrepant phenotypes in the twins is discussed.

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Authors and Affiliations

  1. Division of Medical Genetics, Kanagawa Children's Medical Center, 2-138-4, Mutsukawa, Minami-ku, 232, Yokohama, Japan

    akira Hata, Yasuyuki Suzuki, Ichiro Matsui & Yoshikazu Kuroki

Authors
  1. akira Hata
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  2. Yasuyuki Suzuki
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  3. Ichiro Matsui
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  4. Yoshikazu Kuroki
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Hata, a., Suzuki, Y., Matsui, I. et al. Ring 18 mosaicism in identical twins. Hum Genet 62, 364–367 (1982). https://doi.org/10.1007/BF00304559

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  • DOI: https://doi.org/10.1007/BF00304559

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