Abstract
Because of multiple abnormalities in her children, a young mother was investigated and shown to have a 47,XXX chromosome constitution. Additional C group chromosomes without visible centromeric constrictions were found in a number of cells from the peripheral blood, and using C and Q banding techniques these chromosomes were identified as X chromosomes. Analysis of the banding karyotypes of 300 cells revealed that the acentric X chromosomes had the ability to replicate and that this replication was associated with non-disjunction leading to aneuploid cells. Even though cultured skin cells did not have acentric or extra chromosomes in addition to the triple-X, examination of buccal mucosa cells for the presence of X-bodies suggested that the phenomenon of non-disjunction was present in the epithelial cells of the patient. In addition to the X without a visible centromeric constriction, either acentric D or E chromosomes were found. The data suggest that a functional defect in the cells per se is responsible for the appearance of the acentric chromosomes.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Caspersson T., Zech L., Johansson C. Differential binding of alkylating fluorochromes in human chromosomes. Exp Cell Res. 1970 Jun;60(3):315–319. doi: 10.1016/0014-4827(70)90523-9. [DOI] [PubMed] [Google Scholar]
- MAKINO S., SASAKI M. S. A CHROMOSOMAL ABNORMALITY IN A MYELOCYTIC ALEUKAEMIC LEUKAEMIA. Lancet. 1964 Apr 18;1(7338):851–852. doi: 10.1016/s0140-6736(64)91577-6. [DOI] [PubMed] [Google Scholar]
- Mori M., Sasaki M., Makino S., Fujimoto S. Unusual extra chromosomes in the mother of a 18-trisomy newborn. Jinrui Idengaku Zasshi. 1969 Sep;14(2):145–150. [PubMed] [Google Scholar]
- Sumner A. T. A simple technique for demonstrating centromeric heterochromatin. Exp Cell Res. 1972 Nov;75(1):304–306. doi: 10.1016/0014-4827(72)90558-7. [DOI] [PubMed] [Google Scholar]