Abstract
A clinical and cytogenetic report is made of a patient with microcephaly, peculiar facies, and retardation of physical and mental development, who possesses a karyotype containing a ring chromosome No. 6 identified by Q-staining with quinacrine mustard. This is the first report of a ring autosome in the C group to be identified. Comparison with other patients reported as having C-group autosomal rings failed to reveal many common phenotypic characteristics.
Full text
PDFImages in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Butler L. J., France N. E., Jacoby N. M. An infant with multiple congenital anomalies and a ring chromosome in group C (X-6-12). J Med Genet. 1967 Dec;4(4):295–298. doi: 10.1136/jmg.4.4.295. [DOI] [PMC free article] [PubMed] [Google Scholar]
- De Chieri P. R., Albores J. M., Cosín A., Cosín J. M. A human ring C chromosome associated with multiple congenital abnormalities. J Med Genet. 1972 Jun;9(2):239–242. doi: 10.1136/jmg.9.2.239. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Gacs G., Schuler D., Sellyei M. Familial occurrence of congenital malformations and ring chromosome (46,XX,Cr). J Med Genet. 1970 Jun;7(2):177–179. doi: 10.1136/jmg.7.2.177. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Kistenmacher M. L., Punnett H. H. Comparative behavior of ring chromosomes. Am J Hum Genet. 1970 May;22(3):304–318. [PMC free article] [PubMed] [Google Scholar]
- SMITH-WHITE S., PEACOCK W. J., TURNER B., DEN DULK G. M. A ring chromosome in man. Nature. 1963 Jan 5;197:102–103. doi: 10.1038/197102b0. [DOI] [PubMed] [Google Scholar]
- TURNER B., JENNINGS A. N., den DULK G. M., STAPLETON T. A self-perpetuating ring chromosome. Med J Aust. 1962 Jul 14;49(2):56–58. [PubMed] [Google Scholar]
- Therkelsen A. J., Moller B., Henningsen K. A group-C ring chromosome in a mentally deficient male. J Med Genet. 1971 Jun;8(2):227–230. doi: 10.1136/jmg.8.2.227. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Wurster D., Pomeroy J., Benirschke K., Hoefnagel D. Mental deficiency and malformations in a boy with a group-C ring chromosome: 46, XY, Cr. J Ment Defic Res. 1969 Sep;13(3):184–190. doi: 10.1111/j.1365-2788.1969.tb01078.x. [DOI] [PubMed] [Google Scholar]