Abstract
Cytogenetic investigation of a 3-year-old mentally retarded boy revealed a translocation of the long arm of chromosome 4 onto the short arm of chromosome 9, with ring formation of the remaining short arm of chromosome 4. The clinical features are described and correlated with the cytogenetic findings. The behaviour of the ring derived from a deleted chromosome 4 is discussed.
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.
- Bartram C. R. Sister chromatid exchanges in a ring chromosome 4. Cytogenet Cell Genet. 1977;18(4):238–241. doi: 10.1159/000130766. [DOI] [PubMed] [Google Scholar]
- Bobrow M., Joness L. F., Clarke G. A complex chromosomal rearrangement with formation of a ring 4. J Med Genet. 1971 Jun;8(2):235–239. doi: 10.1136/jmg.8.2.235. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Carter R., Baker E., Hayman D. Congenital malformations associated with a ring 4 chromosome. J Med Genet. 1969 Jun;6(2):224–227. doi: 10.1136/jmg.6.2.224. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Faed M., Stewart A., Keay A. J. Chromosome abnormalities in two cases with bilateral radial element defects. J Med Genet. 1969 Sep;6(3):342–346. doi: 10.1136/jmg.6.3.342. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Guthrie R. D., Aase J. M., Asper A. C., Smith D. W. The 4p- syndrome. A clinically recognizable chromosomal deletion syndrome. Am J Dis Child. 1971 Nov;122(5):421–425. [PubMed] [Google Scholar]
- Kempen C. A patient with congenital anomalies and a deletion of the long arm of the long arm of chromosome 4 [46,XY,del(4)(q31)]. J Med Genet. 1975 Jun;12(2):204–207. doi: 10.1136/jmg.12.2.204. [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]
- McDermott A., Voyce M. A., Romain D. Ring chromosome 4. J Med Genet. 1977 Jun;14(3):228–232. doi: 10.1136/jmg.14.3.228. [DOI] [PMC free article] [PubMed] [Google Scholar]
- McKusick V. A., Ruddle F. H. The status of the gene map of the human chromosomes. Science. 1977 Apr 22;196(4288):390–405. doi: 10.1126/science.850784. [DOI] [PubMed] [Google Scholar]
- Parker C. E., Alfi O. S., Derencsenyi A., Mavalwala J., Donnell G. A child with a ring-4 chromosome (46,XX-46,XX,r 4). Am J Dis Child. 1974 Sep;128(3):371–374. doi: 10.1001/archpedi.1974.02110280101015. [DOI] [PubMed] [Google Scholar]
- Surana R. B., Bailey J. D., Conen P. E. A ring-4 chromosome in a patient with normal intelligence and short stature. J Med Genet. 1971 Dec;8(4):517–521. doi: 10.1136/jmg.8.4.517. [DOI] [PMC free article] [PubMed] [Google Scholar]



