Human Genetics

, Volume 84, Issue 1, pp 79–80

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

  • Kenji Naritomi
  • Yoshinori Izumikawa
  • Satoshi Ohshiro
  • Kaoru Yoshida
  • Nobuyuki Shimozawa
  • Yasuyuki Suzuki
  • Tadao Orii
  • Kiyotake Hirayama
Short Communications

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.

References

  1. Moser HW, Goldfischer SL (1985) The peroxisomal disorders. Hosp Pract 20:61–70Google Scholar
  2. Naritomi K, Hyakuna N, Suzuki Y, Orii T, Hirayama K (1988) Zellweger syndrome and a microdeletion of the proximal long arm of chromosome 7. Hum Genet 80:201–202Google Scholar
  3. Tager JM, Harmsen van der Beek WA ten, Wanders RJA, Hashimoto T, Heymans HSA, Bosch H van den, Schutgens RBH, Schram AW (1985) Peroxisomal β-oxidation enzyme proteins in the Zellweger syndrome. Biochem Biophys Res Commun 126:1269–1275Google Scholar

Copyright information

© Springer-Verlag 1989

Authors and Affiliations

  • Kenji Naritomi
    • 1
  • Yoshinori Izumikawa
    • 1
  • Satoshi Ohshiro
    • 1
  • Kaoru Yoshida
    • 1
  • Nobuyuki Shimozawa
    • 2
  • Yasuyuki Suzuki
    • 2
  • Tadao Orii
    • 2
  • Kiyotake Hirayama
    • 1
  1. 1.Department of PediatricsUniversity of the Ryukyus School of MedicineOkinawaJapan
  2. 2.Department of Pediatrics, Faculty of MedicineGifu UniversityGifuJapan

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