Meiotic Segregation and Interchromosomal Effects in a Rare (1:2:10) Complex Chromosomal Rearrangement

Overview

Journal J Assist Reprod Genet

Publisher Springer

Specialties Genetics
Reproductive Medicine

Date 2011 Nov 23

PMID 22105185

Citations 5

Authors

Gordon Kirkpatrick

Sai Ma

Affiliations

Soon will be listed here.

Abstract

Purpose: Complex chromosomal rearrangements (CCR) are rare rearrangements involving more than two chromosomes and more than two breakpoints. CCR are associated with male infertility as a result of the disruption of spermatogenesis due to complex meiotic configurations and the production of chromosomally abnormal sperm. We examined a carrier of a t(1:2:10) CCR in order to determine the patterns of segregation and any presence of an interchromosomal effect (ICE).

Methods: Centromeric, locus specific and telomeric probes (Vysis, USA) were used for the study. On ~1,000 sperm nuclei from the reciprocal translocation carrier, dual color Fluorescence in situ hybridization (FISH) was performed on each of the involved chromosomes to determine the patterns of segregation. FISH was also performed on chromosome 13, 18, 21, X and Y to determine any ICE.

Results: We observed abnormal chromosome complements in 24.3%, 19.5% and 15.8% of sperm for chromosomes 2, 10 and 1, respectively. There was a significantly increased rate of ICEs for chromosomes 13 and 21 when compared with controls.

Conclusions: CCR may present a lower risk for producing unbalanced chromosomes than other studies have indicated. CCRs may be at an increased risk for ICE especially among acrocentric chromosomes.

Citing Articles

Preliminary analysis of numerical chromosome abnormalities in reciprocal and Robertsonian translocation preimplantation genetic diagnosis cases with 24-chromosomal analysis with an aCGH/SNP microarray.

Xie Y, Xu Y, Wang J, Miao B, Zeng Y, Ding C J Assist Reprod Genet. 2017; 35(1):177-186.

PMID: 28921398 PMC: 5758468. DOI: 10.1007/s10815-017-1045-9.

A family study of complex chromosome rearrangement involving chromosomes 1, 8, and 11 and its reproductive consequences.

Trpchevska N, Dimova I, Arabadji T, Milachich T, Angelova S, Dimitrova M J Assist Reprod Genet. 2017; 34(5):659-669.

PMID: 28236108 PMC: 5427656. DOI: 10.1007/s10815-017-0893-7.

A Rare De novo Complex Chromosomal Rearrangement (CCR) Involving Four Chromosomes in An Oligo-asthenosperm Infertile Man.

Asia S, Vaziri Nasab H, Sabbaghian M, Kalantari H, Zari Moradi S, Gourabi H Cell J. 2014; 16(3):377-82.

PMID: 24611143 PMC: 4204197.

Sequential FISH allows the determination of the segregation outcome and the presence of numerical anomalies in spermatozoa from a t(1;8;2)(q42;p21;p15) carrier.

Godo A, Blanco J, Vidal F, Parriego M, Boada M, Anton E J Assist Reprod Genet. 2013; 30(9):1115-23.

PMID: 23975190 PMC: 3800523. DOI: 10.1007/s10815-013-0063-5.

High-magnification sperm selection does not decrease the aneuploidy rate in patients who are heterozygous for reciprocal translocations.

Chelli M, Ferfouri F, Boitrelle F, Albert M, Molina-Gomes D, Selva J J Assist Reprod Genet. 2013; 30(4):525-30.

PMID: 23468097 PMC: 3644130. DOI: 10.1007/s10815-013-9959-3.

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