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A male infant with monosomy 21

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Summary

A male infant with total monosomy 21 identified by Q-, G- and R-banding is described. His main symptoms are hypertonia, micrognathia, microphthalmus, imperforate anus, ambiguous external genitalia, floating and malopposed thumbs, overlying fingers, right clubfoot and growth retardation. Both parents are phenotypically as well as karyotypically normal.

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Authors and Affiliations

  1. Chromosome Research Unit, Faculty of Science, Hokkaido University, Sapporo

    Yasuhiko Kaneko, Tatsuro Ikeuchi & Motomichi Sasaki

  2. Department of Pediatrics, Asahikawa Municipal Hospital, Asahikawa, Japan

    Yoshio Satake & Shigeru Kuwajima

Authors
  1. Yasuhiko Kaneko
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  2. Tatsuro Ikeuchi
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  3. Motomichi Sasaki
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  4. Yoshio Satake
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  5. Shigeru Kuwajima
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Supported by a grant from the Ministry of Health and Welfare, Japan

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Kaneko, Y., Ikeuchi, T., Sasaki, M. et al. A male infant with monosomy 21. Hum Genet 29, 1–7 (1975). https://doi.org/10.1007/BF00273344

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  • DOI: https://doi.org/10.1007/BF00273344

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