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A case of (13q;18q) translocation with proximal 13q monosomy

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Summary

A case of partial monosomy of the 13p terminal to 13q12, associated with a de novo 13/18 translocation, is reported. The symptoms appeared to be derived from both 18q- and partial monosomy 13, the latter giving rise to: high arched palate, epicanthus, antimongolian slant, small eye fissure, flat nasal bridge, hypoplastic helix, and large clitoris. Serum Ig-A and Ig-M levels were normal in our case.

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References

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Authors and Affiliations

  1. Division of Child Neurology, Institute of Neurological Science, Tottori University School of Medicine, Yonago, Japan

    Yasuyuki Suzuki, Kazuo Ono, Shigehiro Oka, Toshiko Matsubara & Masataka Arima

  2. Department of Human Genetics, National Institute of Genetics, Mishima, Japan

    Yasuo Nakagome

Authors
  1. Yasuyuki Suzuki
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  2. Kazuo Ono
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  3. Shigehiro Oka
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  4. Toshiko Matsubara
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  5. Masataka Arima
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  6. Yasuo Nakagome
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Suzuki, Y., Ono, K., Oka, S. et al. A case of (13q;18q) translocation with proximal 13q monosomy. Hum. Genet. 38, 337–341 (1977). https://doi.org/10.1007/BF00402161

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  • DOI: https://doi.org/10.1007/BF00402161

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