Classical and molecular cytogenetic methods in diagnosis of a rare translocation t(3;21).

  • Authors:
    • H Schmitt
    • M Sasiadek
    • J Jagielski
    • N Blin
  • View Affiliations

  • Published online on: March 1, 1998     https://doi.org/10.3892/ijmm.1.3.569
  • Pages: 569-640
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Abstract

We report the characterization by traditional cytogenetic methods and fluorescence in situ hybridization (FISH) of a rare balanced reciprocal translocation t(3;21) in a male spouse connected with several miscarriages. G- and C-banding analysis of the male karyotype was suggestive of breakpoints in chromosomal bands 3q11.1 and 21p11.1. Multicolor-FISH analysis using chromosome-specific alpha-satellite probes in combination with a locus-specific bacterial artificial chromosome (BAC) from 21q22.3 allowed us both to identify the origin of centromeres in the derivative chromosomes and to establish centromere-telomere orientation of the translocated chromosome 21 segment. Characterization of the translocated chromosomes by FISH analysis permitted describing the exact karyotype of the carrier as: 46,XY,-3,-21,+der(3)(21qterO21q11. 2::3p11.2O cenO3qter),+der(21)(3pterO3p11.2::21q11.2OcenO21pte r).

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Mar 1998
Volume 1 Issue 3

Print ISSN: 1107-3756
Online ISSN:1791-244X

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Spandidos Publications style
Schmitt H, Sasiadek M, Jagielski J and Blin N: Classical and molecular cytogenetic methods in diagnosis of a rare translocation t(3;21).. Int J Mol Med 1: 569-640, 1998
APA
Schmitt, H., Sasiadek, M., Jagielski, J., & Blin, N. (1998). Classical and molecular cytogenetic methods in diagnosis of a rare translocation t(3;21).. International Journal of Molecular Medicine, 1, 569-640. https://doi.org/10.3892/ijmm.1.3.569
MLA
Schmitt, H., Sasiadek, M., Jagielski, J., Blin, N."Classical and molecular cytogenetic methods in diagnosis of a rare translocation t(3;21).". International Journal of Molecular Medicine 1.3 (1998): 569-640.
Chicago
Schmitt, H., Sasiadek, M., Jagielski, J., Blin, N."Classical and molecular cytogenetic methods in diagnosis of a rare translocation t(3;21).". International Journal of Molecular Medicine 1, no. 3 (1998): 569-640. https://doi.org/10.3892/ijmm.1.3.569