Skip to main content
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1991 Aug;28(8):536–538. doi: 10.1136/jmg.28.8.536

De novo ring chromosome 3: a new case with a mild phenotype.

M McKinley 1, A Colley 1, P Sinclair 1, D Donnai 1, T Andrews 1
PMCID: PMC1016983  PMID: 1920370

Abstract

We report an 18 year old female with a de novo ring chromosome 3 found after investigation for short stature. Her karyotype was interpreted as 46,XX, r(3)(p26.2q29). Her phenotype is milder than previously reported cases and illustrates the mild end of the spectrum of the ring chromosome 3 phenotype.

Full text

PDF
536

Images in this article

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Alvarez Arratia M. C., Rivera H., Möller M., Valdivia A., Vigueras A., Cantu J. M. De novo del(3)(q2800). Ann Genet. 1984;27(2):109–111. [PubMed] [Google Scholar]
  2. Kosztolányi G. Does "ring syndrome" exist? An analysis of 207 case reports on patients with a ring autosome. Hum Genet. 1987 Feb;75(2):174–179. doi: 10.1007/BF00591082. [DOI] [PubMed] [Google Scholar]
  3. Narahara K., Kikkawa K., Murakami M., Hiramoto K., Namba H., Tsuji K., Yokoyama Y., Kimoto H. Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome: karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3. Am J Med Genet. 1990 Feb;35(2):269–273. doi: 10.1002/ajmg.1320350225. [DOI] [PubMed] [Google Scholar]
  4. Picciano D. J., Berlin C. M., Davenport S. L., Jacobson C. B. Human ring chromosomes: a report of five cases. Ann Genet. 1972 Dec;15(4):241–247. [PubMed] [Google Scholar]
  5. Tolmie J. L., Batstone P., Ruthven I., Gilmore D. H. Partial deletion of the short arm of chromosome 3. Clin Genet. 1986 Jun;29(6):538–540. doi: 10.1111/j.1399-0004.1986.tb00556.x. [DOI] [PubMed] [Google Scholar]
  6. Wilson G. N., Pooley J., Parker J. The phenotype of ring chromosome 3. J Med Genet. 1982 Dec;19(6):471–473. doi: 10.1136/jmg.19.6.471. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES