Artigo Acesso aberto Revisado por pares

Dicentric X isochromosomes in man.

1976; BMJ; Volume: 13; Issue: 6 Linguagem: Inglês

10.1136/jmg.13.6.496

ISSN

1468-6244

Autores

R T Howell, Susan Roberts, R J Beard,

Tópico(s)

Genomic variations and chromosomal abnormalities

Resumo

Four cases of Turner9s 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.

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