Down's syndrome with a recombinant tandem duplication of chromosome 21 derived from a maternal ring. Issue 4 (August 1984)

• Record Type: Journal Article
• Authors: Howell, R T; McDermott, A; Gardner, A; Dickinson, V
• Is Part Of: Journal of medical genetics. Volume 21:Issue 4(1984)
• Page Start: 310
• Page End: 314
• Publication Date: 1984-08
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.21.4.310
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : An account is given of the cytogenetic investigations of a girl with Down's syndrome found to have a dicentric duplication of chromosome 21. This tandem type of rearrangement was interpreted as a recombinant derived from a single meiotic crossover between a maternal ring 21 and its normal homologue. A population of cells was also found in which breakage of the dicentric resulted in a chromosome 21 with a small terminal deletion. The mother and the proband's younger brother, who was also a ring 21 heterozygote, were both clinically normal.