Literature DB >> 3674110

Decreased cell viability of fibroblasts from two patients with a ring chromosome: an in vitro reflection of growth failure?

G Kosztolányi1.   

Abstract

We found decreased cell viability in fibroblast cultures from two patients, one with ring chromosome 4, the other with ring chromosome 15, who had severe somatic retardation. Cell viability was studied with the trypan blue exclusion assay, and in comparison with matched control cells was found to be 72.0 vs. 93.1%, and 79.8 vs 90.2%, respectively. Cloning efficiency of fibroblasts from the patient with ring chromosome 15 was also decreased (12.3 vs. 25.7%). It is suggested that the decreased cell viability is due to a continuous production of hypomodal cells, a process related to the ring structure per se, and perhaps responsible for the severe somatic retardation frequently observed in patients with a ring chromosome.

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Year:  1987        PMID: 3674110     DOI: 10.1002/ajmg.1320280125

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  6 in total

Review 1.  Ring chromosomes: from formation to clinical potential.

Authors:  Inna E Pristyazhnyuk; Aleksei G Menzorov
Journal:  Protoplasma       Date:  2017-09-12       Impact factor: 3.356

2.  Good growth response to growth hormone treatment in the ring chromosome 15 syndrome.

Authors:  M Nuutinen; K Kouvalainen; M Knip
Journal:  J Med Genet       Date:  1995-06       Impact factor: 6.318

Review 3.  Inherited ring chromosomes: an analysis of published cases.

Authors:  G Kosztolányi; K Méhes; E B Hook
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

4.  Prenatal diagnosis of a fetus with ring chromosomal 15 by two- and three-dimensional ultrasonography.

Authors:  Ingrid Schwach Werneck Britto; Sandra Regina Silva Herbest; Giselle Darahem Tedesco; Carolina Leite Drummond; Luiz Claudio Silva Bussamra; Edward Araujo Júnior; Rodrigo Ruano; Simone Hernandez Ruano; José Mendes Aldrighi
Journal:  Case Rep Obstet Gynecol       Date:  2014-10-20

Review 5.  The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes.

Authors:  Peining Li; Barbara Dupont; Qiping Hu; Marco Crimi; Yiping Shen; Igor Lebedev; Thomas Liehr
Journal:  HGG Adv       Date:  2022-09-10

6.  Complex biology of constitutional ring chromosomes structure and (in)stability revealed by somatic cell reprogramming.

Authors:  T V Nikitina; A A Kashevarova; M M Gridina; M E Lopatkina; A A Khabarova; Yu S Yakovleva; A G Menzorov; Yu A Minina; I E Pristyazhnyuk; S A Vasilyev; D A Fedotov; O L Serov; I N Lebedev
Journal:  Sci Rep       Date:  2021-02-22       Impact factor: 4.379

  6 in total

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