Literature DB >> 926142

The r(20) syndrome.

R Herva, I Saarinen, L Leikkonen.   

Abstract

A 21-year-old woman with a ring-20 chromosome is described. The clinical findings, behaviour problems, epilepsy, and low grade mental retardation are the same as in the 3 cases described earlier. It seems to be justified to speak of a specific ring-20 syndrome.

Entities:  

Mesh:

Year:  1977        PMID: 926142      PMCID: PMC1013586          DOI: 10.1136/jmg.14.4.281

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


  5 in total

1.  Ring F chromosome mosaicism (46,XY,20r-46,XY) in an epileptic child without apparent haematological disease.

Authors:  M Faed; H G Morton; J Robertson
Journal:  J Med Genet       Date:  1972-12       Impact factor: 6.318

2.  Ring formation of chromosomes nos. 19 and 20.

Authors:  I A Uchida; C C Lin
Journal:  Cytogenetics       Date:  1972

3.  Two patients with a 46,XX,Er chromosome constitution.

Authors:  J Leisti; U Gripenberg; E Kivalo; J Palo; B von Schoulz; E Suomalainen
Journal:  Acta Paediatr Scand       Date:  1968-09

4.  Comparative behavior of ring chromosomes.

Authors:  M L Kistenmacher; H H Punnett
Journal:  Am J Hum Genet       Date:  1970-05       Impact factor: 11.025

5.  A ring-20 chromosome.

Authors:  L Atkins; W L Miller; M Salam
Journal:  J Med Genet       Date:  1972-09       Impact factor: 6.318

  5 in total
  3 in total

1.  Phenotypical heterogeneity of morpheic seizures in ring chromosome 20 syndrome: a videopolysomnographic evidence.

Authors:  Loretta Giuliano; Daniela Fatuzzo; Greta Mainieri; Vito Sofia; Mario Zappia
Journal:  Neurol Sci       Date:  2017-02-08       Impact factor: 3.307

2.  Immune function in patients with chromosome deletions.

Authors:  T Nurmi; M Uhari; S L Linna; S Silvennoinen-Kassinen; M Koskela; J Kiuttu; A Tiilikainen
Journal:  Clin Exp Immunol       Date:  1982-04       Impact factor: 4.330

3.  Familial ring (20) chromosomal mosaicism.

Authors:  E Back; I Voiculescu; M Brünger; G Wolff
Journal:  Hum Genet       Date:  1989-09       Impact factor: 4.132

  3 in total

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