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A female infant with monosomy 21

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Summary

A female infant with total monosomy 21 identified by Q banding is described. The main clinical features were hypertonia, prominent occiput, hypertelorism, antimongoloid slant of the eyes, broad nose, “antimongoloid” character of dermatoglyphics. Both parents are phenotypically as well as karyotypically normal.

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References

  • Kaneko, Y., Ikeuchi, T., Sasaki, M., Satake, Y., Kuwajima, S.: A male infant with monosomy 21. Humangenetik 29, 1–7 (1975)

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Authors and Affiliations

  1. I Clinic of Pediatrics, Silesian Academy of Medicine, Zabrze, Poland

    P. Dziuba

  2. Institute of Biomorphology, Silesian Academy of Medicine, Zabrze, Poland

    D. Dziekanowska

  3. Institute of Histology, Academy of Medicine, Łódż, Poland

    H. Hübner

Authors
  1. P. Dziuba
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  2. D. Dziekanowska
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  3. H. Hübner
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Dziuba, P., Dziekanowska, D. & Hübner, H. A female infant with monosomy 21. Hum Genet 31, 351–353 (1976). https://doi.org/10.1007/BF00270866

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  • DOI: https://doi.org/10.1007/BF00270866

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