Literature DB >> 7960007

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.

A A Redha1, D S Murthy, H Kandil, T I Farag, R Usha, S A al-Awadi, L A Jeryan, K al-Nagdy, M el-Ghanem.   

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Year:  1994        PMID： 7960007     DOI： 10.1007/BF02752230

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  8 in total

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

Authors:  N C Nevin; P J Morrison; J Jones; M M Reid
Journal:  J Med Genet       Date:  1990-02       Impact factor: 6.318

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.  Aneuploidy and ageing: chromosome studies on a random sample of the population using G-banding.

Authors:  S M Galloway; K E Buckton
Journal:  Cytogenet Cell Genet       Date:  1978

4.  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

5.  Total aneuploidy and age-related sex chromosome aneuploidy in cultured lymphocytes of normal men and women.

Authors:  P H Fitzgerald; C M McEwan
Journal:  Hum Genet       Date:  1977-12-23       Impact factor: 4.132

6.  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

7.  Partial duplication 8p due to interstitial duplication: inv dup(8)(p21.1----p22). Further delineation of the phenotype from birth to adulthood.

Authors:  A Kleczkowska; J P Fryns; F D'Hondt; J Jaeken; H Van den Berghe
Journal:  Ann Genet       Date:  1987

8.  Characterization of an inversion duplication of the short arm of chromosome 8 by fluorescent in situ hybridization.

Authors:  K G Henderson; F J Dill; S Wood
Journal:  Am J Med Genet       Date:  1992-11-15
  8 in total

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