Literature DB >> 3169748

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

K Naritomi1, N Hyakuna, Y Suzuki, T Orii, K Hirayama.   

Abstract

A 16-day-old girl with Zellweger syndrome and a chromosomal rearrangement, 46,XX,del(7)(q11.22q11.23), is reported. The diagnosis was confirmed by marked deficiencies of peroxisomal beta-oxidation enzymes and dihydroxyacetone phosphate acyltransferase activities in rectal cells and fibroblasts obtained by biopsy and in hepatic cells obtained at autopsy. This is the first report of Zellweger syndrome associated with a chromosomal arrangement, a microdeletion of chromosome 7. A tentative gene assignment to 7q11 is suggested.

Entities:  

Mesh：

Year:  1988        PMID： 3169748     DOI： 10.1007/bf00702873

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


  8 in total

1.  Interstitial 7q deletion [46,XY,del (7) (pter----cen::q112----qter)] in a retarded quadriplegic boy with normal beta glucuronidase.

Authors:  M Frydman; J Steinberger; F Shabtai; R Steinherz
Journal:  Am J Med Genet       Date:  1986-10

2.  Peroxisomal disorders.

Authors:  H W Moser
Journal:  J Pediatr       Date:  1986-01       Impact factor: 4.406

3.  The peroxisomal disorders.

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

Review 4.  Peroxisomal disorders: a newly recognised group of genetic diseases.

Authors:  R B Schutgens; H S Heymans; R J Wanders; H van den Bosch; J M Tager
Journal:  Eur J Pediatr       Date:  1986-02       Impact factor: 3.183

Review 5.  Interstitial deletion of chromosome 7: a case report and review of the literature.

Authors:  J Gibson; P M Ellis; J S Forsyth
Journal:  Clin Genet       Date:  1982-11       Impact factor: 4.438

6.  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

7.  Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome.

Authors:  R B Schutgens; G J Romeyn; R J Wanders; H van den Bosch; G Schrakamp; H S Heymans
Journal:  Biochem Biophys Res Commun       Date:  1984-04-16       Impact factor: 3.575

8.  Interstitial deletion of a chromosome 7 (q11.2q22.1) in a child with splithand/splitfoot malformation.

Authors:  R A Pfeiffer
Journal:  Ann Genet       Date:  1984
  8 in total
  10 in total

Review 1.  Zellweger syndrome and associated phenotypes.

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

2.  Pericentric inversion of chromosome 7 (inv(7) (p22q11.2)) and ring chromosome 8 (r(8) (p23q24.3)) in a girl with minor anomalies.

Authors:  R S Verma; R A Conte; J H Pitter; S Luke
Journal:  J Med Genet       Date:  1992-01       Impact factor: 6.318

Review 3.  Syndromes associated with simple calvarial and complex craniofacial anomalies.

Authors:  P Iannetti; L Chessa; G Iannetti
Journal:  Childs Nerv Syst       Date:  1991-04       Impact factor: 1.475

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

Authors:  K Naritomi; Y Izumikawa; S Ohshiro; K Yoshida; N Shimozawa; Y Suzuki; T Orii; K Hirayama
Journal:  Hum Genet       Date:  1989-12       Impact factor: 4.132

Review 5.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

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

6.  Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans.

Authors:  S Fukuda; N Shimozawa; Y Suzuki; Z Zhang; S Tomatsu; T Tsukamoto; N Hashiguchi; T Osumi; M Masuno; K Imaizumi; Y Kuroki; Y Fujiki; T Orii; N Kondo
Journal:  Am J Hum Genet       Date:  1996-12       Impact factor: 11.025

Review 7.  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

8.  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

9.  Increased de novo copy number variants in the offspring of older males.

Authors:  T Flatscher-Bader; C J Foldi; S Chong; E Whitelaw; R J Moser; T H J Burne; D W Eyles; J J McGrath
Journal:  Transl Psychiatry       Date:  2011-08-30       Impact factor: 6.222

10.  Human peroxisomal targeting signal-1 receptor restores peroxisomal protein import in cells from patients with fatal peroxisomal disorders.

Authors:  E A Wiemer; W M Nuttley; B L Bertolaet; X Li; U Francke; M J Wheelock; U K Anné; K R Johnson; S Subramani
Journal:  J Cell Biol       Date:  1995-07       Impact factor: 10.539
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.