Literature DB >> 475436

Ring 20 chromosome in a child with seizures, minor anomalies, and retardation.

J M Stewart, N Cavanagh, D T Hughes.   

Abstract

A patient is reported with seizures, developmental delay, and minor physical anomalies. Karyotype showed a ring formation of chromosome number 20. Previously reported patients with this chromosomal aberration have typically had seizures and behavioural disorders with considerable variation in the degree of physical abnormality and mental retardation. A correct diagnosis in such a case is important for accurate genetic counselling.

Entities:  

Mesh:

Year:  1979        PMID: 475436      PMCID: PMC1545455          DOI: 10.1136/adc.54.6.477

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN: 0003-9888            Impact factor:   3.791


  7 in total

1.  Chromosomal aberrations in acute leukemia.

Authors:  K A Kiossoglou; W J Mitus; W Dameshek
Journal:  Blood       Date:  1965-11       Impact factor: 22.113

2.  [F fing chromosome (46, XY, Fr) in a boy with multiple abnormalities].

Authors:  J de Grouchy; M Plachot; M Sebaoun; R Bouchard
Journal:  Ann Genet       Date:  1972-06

3.  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

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

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

5.  Further observations on patients with a chromosomal abnormality associated with polycythaemia vera.

Authors:  R E Millard; S D Lawler; H E Kay; C B Cameron
Journal:  Br J Haematol       Date:  1968-04       Impact factor: 6.998

6.  A ring-20 chromosome.

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

7.  A cytogenetic survey of an institution for the mentally retarded: I. Chromosome abnormalities.

Authors:  P A Jacobs; J S Matsuura; M Mayer; I M Newlands
Journal:  Clin Genet       Date:  1978-01       Impact factor: 4.438

  7 in total
  3 in total

1.  Cognitive impairment and abnormal behaviour related to ring chromosome 20 aberration.

Authors:  Maximilian Gahr; Frank Kerling; Andrea Ludolph; Paul Plener
Journal:  J Autism Dev Disord       Date:  2012-06

2.  Ring 20 chromosome phenotype.

Authors:  B Porfirio; M G Valorani; A Giannotti; G Sabetta; B Dallapiccola
Journal:  J Med Genet       Date:  1987-06       Impact factor: 6.318

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

北京卡尤迪生物科技股份有限公司 © 2022-2023.