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PMID: 1018308 Published · ppublish English Journal Article

Dicentric X isochromosomes in man.

Journal of medical genetics ·Vol. 13 ·No. 6 ·1976-12-00 ·Pages 496-500

Howell RT, Roberts SH, Beard RJ

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.

MeSH Terms
Adolescent Child Female Humans Mosaicism Sex Chromosomes Turner Syndrome/genetics
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Howell R T
Roberts S H
Beard R J
References (13)
13 references, click to expand
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Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
Published
1976-12-00
Pages
496-500
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1013476
Subset
IM
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