Dicentric X isochromosomes in man. Issue 6 (December 1976)

• Record Type: Journal Article
• Authors: Howell, R T; Roberts, S H; Beard, R J
• Is Part Of: Journal of medical genetics. Volume 13:Issue 6(1976)
• Page Start: 496
• Page End: 500
• Publication Date: 1976-12
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.13.6.496
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : Four cases of Turner's syndrome are presented in which an apparent X isochromosome i(Xq) has been found to possess two regions of centromeric heterochromatin. It is suggested that these chromosomes were isodicentric structures capable of functioning as monocentric elements as a result of the inactivation of one centromere. The prevalence of mosaicism is believed to be a consequence of the dicentric nature of these chromosomes, and it is considered possible that a high proportion of X isochromosmes are structurally dicentric. Banding patterns showed that the exchange site involved in the formation of the dicentric chromosome was different in at least three of the cases.