Reciprocal Translocations: a Way to Predict the Mode of Imbalanced Segregation by Pachytene-diagram Drawing

Overview

Journal Hum Genet

Specialty Genetics

Date 1980 Jan 1

PMID 7450764

Citations 38

Authors

P Jalbert

B Sele

H Jalbert

Affiliations

Soon will be listed here.

Abstract

The study of 151 reciprocal translocations associated with abnormal probands shows that the mode of imbalance at birth is determined by the nature of the involved chromosomes and by the position of the breakpoints. For each of the three modes (adjacent-1, adjacent-2, and 3:1) there is a corresponding pachytene diagram, so that for each translocation variety it is possible to predict the most probable mode of imbalance. The determining factor is the relative length of the different branches of the cross formed by the tetravalent. However, some heterochromatic regions (9qh, short arms of acrocentric chromosomes) and possibly R-negative regions have a minor role. The factors involved in these mechanisms seem to be the selection and the chiasma position; their respective roles are discussed.

Citing Articles

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Identifying Balanced Chromosomal Translocations in Human Embryos by Oxford Nanopore Sequencing and Breakpoints Region Analysis.

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The impact of patient, embryo, and translocation characteristics on the ploidy status of young couples undergoing preimplantation genetic testing for structural rearrangements (PGT-SR) by next generation sequencing (NGS).

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Interchromosomal effect in carriers of translocations and inversions assessed by preimplantation genetic testing for structural rearrangements (PGT-SR).

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The decision on the embryo to transfer after Preimplantation Genetic Diagnosis for X-autosome reciprocal translocation in male carrier.

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