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

Schmitt,H; Sasiadek,M; Jagielski,J; Blin,N

doi:10.3892/ijmm.1.3.569

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

Authors:
- H Schmitt
- M Sasiadek
- J Jagielski
- N Blin
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Affiliations: Division of Molecular Genetics, Department of Anthropology and Human Genetics, University of Tübingen, D72074 Tübingen, Germany.
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).