A dicentric recombinant 9 derived from a paracentric inversion: phenotype, cytogenetics, and molecular analysis of centromeres

M. J. Worsham, D. A. Miller, J. M. Devries, A. R. Mitchell, V. R. Babu, V. Surli, L. Weiss, D. L. Van Dyke

Research output: Contribution to journalArticle

21 Scopus citations

Abstract

A 4-year-old girl with multiple malformations and severe developmental delay has been shown to have a karyotype of 46,XX,-9,+rec(9),dup p,inv(9) (q22.1q34.3)mat, with duplication 9pter-q22.1 and deficiency 9q34.3-qter. This case confirms that a stable recombinant chromosome can result from a paracentric inversion. The recombinant was derived by two crossovers, one within the inversion loop and a second outside the inversion loop, between 9q21 and the beginning of the meiotic inversion at 9q22.1. In 87 cells the rec(9) had one Cd-positive primary constriction. In 13 cells the rec(9) had two primary constrictions; in 12 of these cells there was one Cd-positive centromere, and in one of these cells both primary constrictions were Cd-positive. Nuclear projections were observed in 10% of fibroblast interphase cells harvested in situ, suggesting that there was some spindle-fiber activity of the 'latent' centromere. In situ hybridization with a centromere-specific probe (p82H) and a satellite III probe (L6) revealed no differences between the two C-band regions of the rec(9) and the normal 9 or inverted 9 chromosomes.

Original languageEnglish (US)
Pages (from-to)115-123
Number of pages9
JournalAmerican journal of human genetics
Volume44
Issue number1
StatePublished - 1989

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Worsham, M. J., Miller, D. A., Devries, J. M., Mitchell, A. R., Babu, V. R., Surli, V., Weiss, L., & Van Dyke, D. L. (1989). A dicentric recombinant 9 derived from a paracentric inversion: phenotype, cytogenetics, and molecular analysis of centromeres. American journal of human genetics, 44(1), 115-123.