Literature DB >> 2606480

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

K Naritomi1, Y Izumikawa, S Ohshiro, K Yoshida, N Shimozawa, Y Suzuki, T Orii, K Hirayama.   

Abstract

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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Year:  1989        PMID： 2606480     DOI： 10.1007/bf00210677

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  3 in total

1.  Zellweger syndrome and a microdeletion of the proximal long arm of chromosome 7.

Authors:  K Naritomi; N Hyakuna; Y Suzuki; T Orii; K Hirayama
Journal:  Hum Genet       Date:  1988-10       Impact factor: 4.132

2.  The peroxisomal disorders.

Authors:  H W Moser; S L Goldfischer
Journal:  Hosp Pract (Off Ed)       Date:  1985-09-15

3.  Peroxisomal beta-oxidation enzyme proteins in the Zellweger syndrome.

Authors:  J M Tager; W A Van der Beek; R J Wanders; T Hashimoto; H S Heymans; H Van den Bosch; R B Schutgens; A W Schram
Journal:  Biochem Biophys Res Commun       Date:  1985-02-15       Impact factor: 3.575
  3 in total
  5 in total

Review 1.  Zellweger syndrome and associated phenotypes.

Authors:  D R FitzPatrick
Journal:  J Med Genet       Date:  1996-10       Impact factor: 6.318

Review 2.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

Review 3.  Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review.

Authors:  Mousumi Bose; Christine Yergeau; Yasmin D'Souza; David D Cuthbertson; Melisa J Lopez; Alyssa K Smolen; Nancy E Braverman
Journal:  Cells       Date:  2022-06-10       Impact factor: 7.666

Review 4.  Peroxisomal disorders: a review.

Authors:  B Fournier; J A Smeitink; L Dorland; R Berger; J M Saudubray; B T Poll-The
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

5.  Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy.

Authors:  B Fournier; J M Saudubray; B Benichou; S Lyonnet; A Munnich; H Clevers; B T Poll-The
Journal:  J Clin Invest       Date:  1994-08       Impact factor: 14.808
  5 in total

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