FISH analysis of numerical chromosomal abnormalities in the sperm of robertsonian translocation der(13; 14)(q10;q10) carriers
Fluorescence in situ hybridization analysis of numerical chromosomal abnormalities in the sperm of Robertsonian translocation der (13;14) (q10;q10) carriers has focused on a limited number of chromosomes mainly on chromosome 13, 18, 21, X, and Y. Here, we aimed to expand the analysis to all chromoso...
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Frontiers Media S.A.
2022-09-01
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author | Saijuan Zhu Yong Zhu Feng Zhang Junping Wu Ying Chen Yijuan Sun Jing Fu Jiangnan Wu Min Xiao Shuo Zhang Jing Zhou Caixia Lei Feng Jiang |
author_facet | Saijuan Zhu Yong Zhu Feng Zhang Junping Wu Ying Chen Yijuan Sun Jing Fu Jiangnan Wu Min Xiao Shuo Zhang Jing Zhou Caixia Lei Feng Jiang |
author_sort | Saijuan Zhu |
collection | DOAJ |
description | Fluorescence in situ hybridization analysis of numerical chromosomal abnormalities in the sperm of Robertsonian translocation der (13;14) (q10;q10) carriers has focused on a limited number of chromosomes mainly on chromosome 13, 18, 21, X, and Y. Here, we aimed to expand the analysis to all chromosomes by increasing the number of probes analyzed in fluorescence in situ hybridization. The incidence of numerical abnormalities of all chromosomes (1–22, X, and Y) was determined in sperm from 10 carriers of the Robertsonian translocation der(13;14)(q10;q10) and 10 normozoospermic males to fully assess the effect of translocation-derived chromosome on the segregation of all chromosomes during meiosis. Numerical abnormalities of the two translocated chromosomes were frequently detected in the sperm of der (13;14) translocation carriers, with an average frequency of 14.55% ± 6.00% for chromosome 13 and 13.27% ± 4.14% for chromosome 14. Numerical abnormalities of nontranslocated chromosomes, with an average frequency of 1.77% ± 0.62% (range, 1.16%–3.73%), was lower than that of translocated chromosome. However, the cumulative numerical abnormality of the 22 nontranslocated chromosomes was comparable to that of the two translocated chromosomes. Significantly increased numerical abnormalities in der(13;14) translocation carriers compared with those in normozoospermic males indicates the presence of translocation-derived chromosome disturbances, with translocated chromosomes being most affected; nontranslocated chromosomes were also affected, but to a lesser extent due to a mild interchromosomal effect. |
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spelling | doaj.art-a79152dcbc2c47f8a1f680ea27b5d8262022-12-22T04:25:58ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-09-011310.3389/fgene.2022.10105681010568FISH analysis of numerical chromosomal abnormalities in the sperm of robertsonian translocation der(13; 14)(q10;q10) carriersSaijuan Zhu0Yong Zhu1Feng Zhang2Junping Wu3Ying Chen4Yijuan Sun5Jing Fu6Jiangnan Wu7Min Xiao8Shuo Zhang9Jing Zhou10Caixia Lei11Feng Jiang12Laboratory of Genetics, Shanghai Ji Ai Genetics and IVF Institute, Shanghai, ChinaHuman Sperm Bank, Fudan University, Shanghai, ChinaHuman Sperm Bank, Fudan University, Shanghai, ChinaLaboratory of Genetics, Shanghai Ji Ai Genetics and IVF Institute, Shanghai, ChinaLaboratory of Andrology, Shanghai Ji Ai Genetics and IVF Institute, Shanghai, ChinaLaboratory of Embryology, Shanghai Ji Ai Genetics and IVF Institute, Shanghai, ChinaLaboratory of Embryology, Shanghai Ji Ai Genetics and IVF Institute, Shanghai, ChinaDepartment of Clinical Epidemiology, Clinical Research Unit, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, ChinaLaboratory of Genetics, Shanghai Ji Ai Genetics and IVF Institute, Shanghai, ChinaLaboratory of Genetics, Shanghai Ji Ai Genetics and IVF Institute, Shanghai, ChinaLaboratory of Genetics, Shanghai Ji Ai Genetics and IVF Institute, Shanghai, ChinaLaboratory of Genetics, Shanghai Ji Ai Genetics and IVF Institute, Shanghai, ChinaHuman Sperm Bank, Fudan University, Shanghai, ChinaFluorescence in situ hybridization analysis of numerical chromosomal abnormalities in the sperm of Robertsonian translocation der (13;14) (q10;q10) carriers has focused on a limited number of chromosomes mainly on chromosome 13, 18, 21, X, and Y. Here, we aimed to expand the analysis to all chromosomes by increasing the number of probes analyzed in fluorescence in situ hybridization. The incidence of numerical abnormalities of all chromosomes (1–22, X, and Y) was determined in sperm from 10 carriers of the Robertsonian translocation der(13;14)(q10;q10) and 10 normozoospermic males to fully assess the effect of translocation-derived chromosome on the segregation of all chromosomes during meiosis. Numerical abnormalities of the two translocated chromosomes were frequently detected in the sperm of der (13;14) translocation carriers, with an average frequency of 14.55% ± 6.00% for chromosome 13 and 13.27% ± 4.14% for chromosome 14. Numerical abnormalities of nontranslocated chromosomes, with an average frequency of 1.77% ± 0.62% (range, 1.16%–3.73%), was lower than that of translocated chromosome. However, the cumulative numerical abnormality of the 22 nontranslocated chromosomes was comparable to that of the two translocated chromosomes. Significantly increased numerical abnormalities in der(13;14) translocation carriers compared with those in normozoospermic males indicates the presence of translocation-derived chromosome disturbances, with translocated chromosomes being most affected; nontranslocated chromosomes were also affected, but to a lesser extent due to a mild interchromosomal effect.https://www.frontiersin.org/articles/10.3389/fgene.2022.1010568/fullinter-chromosomal effectrobertsonian translocationspermatozoameiotic segregationaneuploidy |
spellingShingle | Saijuan Zhu Yong Zhu Feng Zhang Junping Wu Ying Chen Yijuan Sun Jing Fu Jiangnan Wu Min Xiao Shuo Zhang Jing Zhou Caixia Lei Feng Jiang FISH analysis of numerical chromosomal abnormalities in the sperm of robertsonian translocation der(13; 14)(q10;q10) carriers Frontiers in Genetics inter-chromosomal effect robertsonian translocation spermatozoa meiotic segregation aneuploidy |
title | FISH analysis of numerical chromosomal abnormalities in the sperm of robertsonian translocation der(13; 14)(q10;q10) carriers |
title_full | FISH analysis of numerical chromosomal abnormalities in the sperm of robertsonian translocation der(13; 14)(q10;q10) carriers |
title_fullStr | FISH analysis of numerical chromosomal abnormalities in the sperm of robertsonian translocation der(13; 14)(q10;q10) carriers |
title_full_unstemmed | FISH analysis of numerical chromosomal abnormalities in the sperm of robertsonian translocation der(13; 14)(q10;q10) carriers |
title_short | FISH analysis of numerical chromosomal abnormalities in the sperm of robertsonian translocation der(13; 14)(q10;q10) carriers |
title_sort | fish analysis of numerical chromosomal abnormalities in the sperm of robertsonian translocation der 13 14 q10 q10 carriers |
topic | inter-chromosomal effect robertsonian translocation spermatozoa meiotic segregation aneuploidy |
url | https://www.frontiersin.org/articles/10.3389/fgene.2022.1010568/full |
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