Hostname: page-component-77c89778f8-m8s7h Total loading time: 0 Render date: 2024-07-22T11:53:12.670Z Has data issue: false hasContentIssue false

Human Ring Chromosome Syndromes: An “E” Ring Associated with an Abnormal Phenotype*

Published online by Cambridge University Press:  01 August 2014

Anil K. Sinha*
Affiliation:
Texas Children's Hospital, Houston, Texas

Summary

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

In peripheral blood cultures of a phenotypically abnormal Caucasian girl, a ring-shaped chromosome was observed in place of an E group member. The rest of the chromosomes of the complement did not show any obvious structural anomaly. The ring chromosome was noted in 100% of the recorded cells, and its size in individual metaphases remained fairly constant. It is suggested that this ring chromosome has become a permanent part of the complement of the patient.

Type
Research Article
Copyright
Copyright © The International Society for Twin Studies 1968

Footnotes

*

Supported in part by Baylor University College of Medicine General Research Grant (P-13) and grants from the James Picker Foundation and the Texas Heart Association. Harvey S. Rosenberg, M. D., Director of Laboratories, Texas Children's Hospital, has prepared the case history of the patient. Technical assistance was provided by Miss Marion Gay and Miss Shirley Powell. The editorial assistance of Miss Marilyn Morningstar is also acknowledged.

References

Genest, P. et al. (1963). Ring chromosome and partial translocation in the same cell. Lancet, 2: 1426.Google Scholar
Gripenberg, U. (1967). The cytological behavior of a human ring-chromosome. Chromosoma, 20: 284.CrossRefGoogle ScholarPubMed
Gropp, A. et al. (1964). Multiple congenital anomalies associated with a partially ring-shaped chromosome probably derived from chromosome No. 18 in man. Nature, 202: 829,CrossRefGoogle ScholarPubMed
Jacobsen, P. (1966). A ring chromosome in the 13-15 group associated with microcephalic dwarfism, mental retardation and emotional immaturity. Hereditas, 55: 188.CrossRefGoogle Scholar
Levan, A. (1956). Self perpetuating ring chromosomes in two human tumours. Hereditas, 42: 366.CrossRefGoogle Scholar
Lucas, M. et al. (1963). A small autosomal ring chromosome in a female infant with congenital malformations. Ann. Hum. Genet., 27: 189.Google Scholar
McClintock, B. (1938). The production of homozygous deficient tissues with mutant characteristics by means of the aberrant mitotic behavior of ring-shaped chromosomes. Genetics, 23: 315.Google Scholar
Moorhead, P. S. et al. (1960). Chromosome preparations of leucocytes cultured from human peripheral blood. Exp. Cell Res., 20: 613.CrossRefGoogle ScholarPubMed
Morgan, L. V. (1933). A closed X-chromosome in Drosophila melanogaster. Genetics, 18: 250.Google Scholar
Sinha, A. K. (1967). Spontaneous occurrence of tetraploidy and near-haploidy in mammalian peripheral blood. Expt. Cell Res. 47: 443.CrossRefGoogle ScholarPubMed
Wang, H. C. et al. (1962). Ring chromosomes in human beings. Nature, 195: 733.Google Scholar