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. 1989 Jan;44(1):115–123.

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

M J Worsham 1, D A Miller 1, J M Devries 1, A R Mitchell 1, V R Babu 1, V Surli 1, L Weiss 1, D L Van Dyke 1
PMCID: PMC1715475  PMID: 2909165

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.

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These references are in PubMed. This may not be the complete list of references from this article.

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