Literature DB >> 2319583

Inverted tandem duplication of 8p12----p23.1 in a child with increased activity of glutathione reductase.

N C Nevin1, P J Morrison, J Jones, M M Reid.   

Abstract

At least 16 cases of inversion tandem duplications of the short arm of chromosome 8 have been reported. Structural rearrangements of chromosome 8 have made it possible to localise the gene for glutathione reductase (GSR) to 8p21.1. We report here on a 16 month old boy with mental retardation with partial trisomy 8 owing to a de novo inv dup(8)(p12----p23.1).

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Year:  1990        PMID： 2319583      PMCID： PMC1016937          DOI： 10.1136/jmg.27.2.135

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  4 in total

1.  Gene dose effect: regional mapping of human glutathione reductase on chromosome 8.

Authors:  D L George; U Francke
Journal:  Cytogenet Cell Genet       Date:  1976

2.  Inverted tandem duplication generates a duplication deficiency of chromosome 8p.

Authors:  F J Dill; M Schertzer; J Sandercock; B Tischler; S Wood
Journal:  Clin Genet       Date:  1987-08       Impact factor: 4.438

3.  Partial 8p trisomy due to interstitial duplication: karyotype: 46, XX, inv dup(8) (p21.1----p22).

Authors:  J P Fryns; A Kleczkowska; A M Dereymaker; M Hoefnagels; G Heremans; J Marien; H van den Berghe
Journal:  Clin Genet       Date:  1985-12       Impact factor: 4.438

4.  Inverted tandem duplication of the short arm of chromosome 8: a non-random de novo structural aberration in man. Localization of the gene for glutathione reductase in subband 8p21.1.

Authors:  P K Jensen; C Junien; S Despoisse; A Bernsen; T Thelle; U Friedrich; A de la Chapelle
Journal:  Ann Genet       Date:  1982
  4 in total
  5 in total

1.  Cloning, sequencing, and analysis of inv8 chromosome breakpoints associated with recombinant 8 syndrome.

Authors:  S L Graw; T Sample; J Bleskan; E Sujansky; D Patterson
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025

2.  Trisomy 8p: unusual origin detected by fluorescence in situ hybridization.

Authors:  C M Moore; K Barnum; C I Kaye; K S Kagan-Hallett; J C Liang
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

3.  Familial partial trisomy 8p without dysmorphic features and only mild mental retardation.

Authors:  J J Engelen; C E de Die-Smulders; J M Sijstermans; L E Meers; J C Albrechts; A J Hamers
Journal:  J Med Genet       Date:  1995-10       Impact factor: 6.318

4.  Partial trisomy of short arm of chromosome 8 (46,XY, inv dup (8) (p21-->pter) in a Bedouin child with multiple congenital anomalies and mental retardation.

Authors:  A A Redha; D S Murthy; H Kandil; T I Farag; R Usha; S A al-Awadi; L A Jeryan; K al-Nagdy; M el-Ghanem
Journal:  Indian J Pediatr       Date:  1994 May-Jun       Impact factor: 1.967

5.  D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p).

Authors:  A Minelli; G Floridia; E Rossi; M Clementi; R Tenconi; L Camurri; F Bernardi; H Hoeller; C Previde Re; P Maraschio
Journal:  Hum Genet       Date:  1993-10       Impact factor: 4.132
  5 in total

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