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Trisomy 9 mosaicism with punctate mineralization in developing cartilages

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Abstract

A case of mosaic trisomy 9 (46,XX/47,XX,+9) is described. The main clinical findings included intrauterine growth retardation, failure to thrive, hydrocephalus, deeply set eyes, prominent antihelix, highly arched palate, subluxation of the interphalangeal joints of some fingers, hip dislocation, excessive sweating, and punctate mineralization in developing cartilages.

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Authors and Affiliations

  1. Department of Pediatrics, Nihon University School of Medicine, Tokyo, Japan

    A. Akatsuka, O. Nishiya & T. Kitagawa

  2. Department of Pediatrics, Omori Red Cross Hospital, Tokyo, Japan

    A. Kageyama & I. Inana

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

    Y. Nakagome

Authors
  1. A. Akatsuka
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  2. O. Nishiya
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  3. T. Kitagawa
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  4. A. Kageyama
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  5. I. Inana
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  6. Y. Nakagome
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Additional information

Supported in part by grants to Y.N. from the Ministry of Health and Welfare and the Ministry of Education, Japan

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Akatsuka, A., Nishiya, O., Kitagawa, T. et al. Trisomy 9 mosaicism with punctate mineralization in developing cartilages. Eur J Pediatr 131, 271–275 (1979). https://doi.org/10.1007/BF00444348

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  • DOI: https://doi.org/10.1007/BF00444348

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