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Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7

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Summary

The case of a newborn girl with Zellweger syndrome and a pericentric inversion of chromosome 7, 46,XX, inv(7)(p12q11.23), is reported. The diagnosis was confirmed by marked deficiency of peroxisomal beta-oxidation enzymes in hepatic cells from autopsy samples. This is the second case of Zellweger syndrome associated with a rearrangement of chromosome 7, the tentative gene assignment to 7q11 being further supported; the gene is probably confiend to 7q11.23.

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References

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Authors and Affiliations

  1. Department of Pediatrics, University of the Ryukyus School of Medicine, 207 Uehara, Nishihara, 903-01, Okinawa, Japan

    Kenji Naritomi, Yoshinori Izumikawa, Satoshi Ohshiro, Kaoru Yoshida & Kiyotake Hirayama

  2. Department of Pediatrics, Faculty of Medicine, Gifu University, Gifu, Japan

    Nobuyuki Shimozawa, Yasuyuki Suzuki & Tadao Orii

Authors
  1. Kenji Naritomi
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  2. Yoshinori Izumikawa
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  3. Satoshi Ohshiro
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  4. Kaoru Yoshida
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  5. Nobuyuki Shimozawa
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  6. Yasuyuki Suzuki
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  7. Tadao Orii
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  8. Kiyotake Hirayama
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Naritomi, K., Izumikawa, Y., Ohshiro, S. et al. Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7. Hum Genet 84, 79–80 (1989). https://doi.org/10.1007/BF00210677

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  • DOI: https://doi.org/10.1007/BF00210677

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