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A report of nine cases and review of the literature of infertile men carrying balanced translocations involving chromosome 5
BACKGROUND: Balanced translocations may cause the loss of genetic material at the breakpoints and may result in failure of spermatogenesis. However, carriers of reciprocal translocation may naturally conceive. Genetic counseling of male carriers of translocations remains challenging. This study expl...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785882/ https://www.ncbi.nlm.nih.gov/pubmed/29416565 http://dx.doi.org/10.1186/s13039-018-0360-x |
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author | Zhang, Hong-Guo Wang, Rui-Xue Pan, Yuan Zhang, Han Li, Lei-Lei Zhu, Hai-Bo Liu, Rui-Zhi |
author_facet | Zhang, Hong-Guo Wang, Rui-Xue Pan, Yuan Zhang, Han Li, Lei-Lei Zhu, Hai-Bo Liu, Rui-Zhi |
author_sort | Zhang, Hong-Guo |
collection | PubMed |
description | BACKGROUND: Balanced translocations may cause the loss of genetic material at the breakpoints and may result in failure of spermatogenesis. However, carriers of reciprocal translocation may naturally conceive. Genetic counseling of male carriers of translocations remains challenging. This study explores the clinical features of carriers of chromosome 5 translocations, enabling informed genetic counseling of these patients. RESULTS: Of 82 translocation carriers, 9 (11%) were carriers of a chromosome 5 translocation. One case had azoospermia, while three cases had experienced recurrent spontaneous abortions, two cases had each experienced stillbirth, and three cases produced a phenotypically normal child confirmed by amniocentesis. A literature review identified 106 patients who carried chromosome 5 translocations. The most common chromosome 5 translocation was t(4,5), observed in 13 patients. Breakpoint at 5p15 was observed in 11 patients. All breakpoints at chromosome 5 were associated with gestational infertility. CONCLUSION: In genetic counseling, physicians should consider chromosome 5 and its breakpoints. Carriers of chromosome 5 translocations may continue with natural conception or use assisted reproductive technologies, such as preimplantation genetic diagnosis. |
format | Online Article Text |
id | pubmed-5785882 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-57858822018-02-07 A report of nine cases and review of the literature of infertile men carrying balanced translocations involving chromosome 5 Zhang, Hong-Guo Wang, Rui-Xue Pan, Yuan Zhang, Han Li, Lei-Lei Zhu, Hai-Bo Liu, Rui-Zhi Mol Cytogenet Review BACKGROUND: Balanced translocations may cause the loss of genetic material at the breakpoints and may result in failure of spermatogenesis. However, carriers of reciprocal translocation may naturally conceive. Genetic counseling of male carriers of translocations remains challenging. This study explores the clinical features of carriers of chromosome 5 translocations, enabling informed genetic counseling of these patients. RESULTS: Of 82 translocation carriers, 9 (11%) were carriers of a chromosome 5 translocation. One case had azoospermia, while three cases had experienced recurrent spontaneous abortions, two cases had each experienced stillbirth, and three cases produced a phenotypically normal child confirmed by amniocentesis. A literature review identified 106 patients who carried chromosome 5 translocations. The most common chromosome 5 translocation was t(4,5), observed in 13 patients. Breakpoint at 5p15 was observed in 11 patients. All breakpoints at chromosome 5 were associated with gestational infertility. CONCLUSION: In genetic counseling, physicians should consider chromosome 5 and its breakpoints. Carriers of chromosome 5 translocations may continue with natural conception or use assisted reproductive technologies, such as preimplantation genetic diagnosis. BioMed Central 2018-01-25 /pmc/articles/PMC5785882/ /pubmed/29416565 http://dx.doi.org/10.1186/s13039-018-0360-x Text en © The Author(s). 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Review Zhang, Hong-Guo Wang, Rui-Xue Pan, Yuan Zhang, Han Li, Lei-Lei Zhu, Hai-Bo Liu, Rui-Zhi A report of nine cases and review of the literature of infertile men carrying balanced translocations involving chromosome 5 |
title | A report of nine cases and review of the literature of infertile men carrying balanced translocations involving chromosome 5 |
title_full | A report of nine cases and review of the literature of infertile men carrying balanced translocations involving chromosome 5 |
title_fullStr | A report of nine cases and review of the literature of infertile men carrying balanced translocations involving chromosome 5 |
title_full_unstemmed | A report of nine cases and review of the literature of infertile men carrying balanced translocations involving chromosome 5 |
title_short | A report of nine cases and review of the literature of infertile men carrying balanced translocations involving chromosome 5 |
title_sort | report of nine cases and review of the literature of infertile men carrying balanced translocations involving chromosome 5 |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785882/ https://www.ncbi.nlm.nih.gov/pubmed/29416565 http://dx.doi.org/10.1186/s13039-018-0360-x |
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