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Related Experiment Video

Updated: Jun 30, 2026

Quantitation and Analysis of the Formation of HO-Endonuclease Stimulated Chromosomal Translocations by Single-Strand Annealing in Saccharomyces cerevisiae

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Published on: September 23, 2011

Reciprocal translocations: tracing their meiotic behavior.

Ester Anton¹, Francesca Vidal, Joan Blanco

¹Facultat de Biociències, Unitat de Biologia Cel lular, Universitat Autònoma de Barcelona, Bellaterra, Spain.

Genetics in Medicine : Official Journal of the American College of Medical Genetics

|September 25, 2008

Summary

Reciprocal translocations show more consistent segregation patterns than previously thought, influenced by specific cytogenetic features. Interchromosomal effects contribute to genetic imbalances in carriers.

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Area of Science:

Human genetics
Reproductive biology
Cytogenetics

Background:

Reciprocal translocations in carriers exhibit significant heterogeneity in segregation and interchromosomal effects.
Previous studies attributed variability to specific rearrangement characteristics, but consensus on influencing factors is lacking.

Purpose of the Study:

To identify cytogenetic features that influence segregation patterns and interchromosomal effects in reciprocal translocation carriers.

Main Methods:

Sperm-fluorescent in situ hybridization (FISH) was used to analyze segregation products in 14 carriers with diverse cytogenetic features.
Tetravalent pairing geometry, translocated segment size, centric segment size, and acrocentric centromere position were assessed.
Interchromosomal effects were evaluated using triple-color FISH for chromosomes X, Y, and 18.

Main Results:

A preferential segregation pattern (Alternate > Adjacent I > Adjacent II > 3:1) was observed.
Translocated segment size, centric segment size, and acrocentric centromere position influenced segregation patterns.
Seven carriers showed increased frequencies of numerical chromosomal anomalies, indicating interchromosomal effects.

Conclusions:

Reciprocal translocations demonstrate more homogeneous segregation behavior than previously reported.
Interchromosomal effects are a significant additional source of genetic imbalances in carriers.