Classical and molecular cytogenetic methods in diagnosis of a rare translocation t(3;21).
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).
Schmitt
H
H
Division of Molecular Genetics, Department of Anthropology and Human Genetics, University of Tübingen, D72074 Tübingen, Germany.
Sasiadek
M
M
Jagielski
J
J
Blin
N
N
D000022:Abortion, Spontaneous; D000328:Adult; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D005220:Fathers; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D014178:Translocation, Genetic