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Trisomy 12p syndrome

De novo occurrence of mosaic trisomy 12p in a mentally retarded boy

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Summary

The first case of trisomy of probable 12p mosaicism originated de novo is presented. Comparison of the clinical findings of this patient with those of previously described cases of 12p trisomy derived from translocated chromosomes indicates that the symptoms of 12p trisomy are: (1) normal birth weight and physical development, (2) severe psychomotor retardation and generalized hypotonia, (3) peculiarly round face with prominent cheeks, hypertelorism, epicanthus, broad, flat nasal bridge, short nose with anteverted nostrils, large philtrum, broad, prominent lower lip, and (4) poly(syn)dactyly of feet.

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Authors and Affiliations

  1. Department of Human Genetics, Institute of Basic Medical Science, The University of Tsukuba, Sakura-mura, Niihari-gun, Ibaraki-ken, 300-31, Japan

    Ikuko Kondo & Hideo Hamaguchi

  2. Department of Psychology, Ibaraki Prefectural Hospital, Ibaraki, Japan

    Tadashi Haneda

Authors
  1. Ikuko Kondo
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  2. Hideo Hamaguchi
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  3. Tadashi Haneda
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Kondo, I., Hamaguchi, H. & Haneda, T. Trisomy 12p syndrome. Hum Genet 46, 135–140 (1979). https://doi.org/10.1007/BF00291913

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  • DOI: https://doi.org/10.1007/BF00291913

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