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Pericentric inversion of chromosome 6 and male fertility problems

As a significant chromosomal structural abnormality, chromosomal inversion is closely related to male infertility. For inversion carriers, the interchromosomal effect explains male infertility, but its specific mechanism remains unclear. Additionally, inversion carriers with different chromosomes ha...

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Detalles Bibliográficos
Autores principales: Fan, Haitao, Liu, Zhe, Zhan, Peng, Jia, Guoliang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: De Gruyter 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8773013/
https://www.ncbi.nlm.nih.gov/pubmed/35111972
http://dx.doi.org/10.1515/med-2022-0411
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author Fan, Haitao
Liu, Zhe
Zhan, Peng
Jia, Guoliang
author_facet Fan, Haitao
Liu, Zhe
Zhan, Peng
Jia, Guoliang
author_sort Fan, Haitao
collection PubMed
description As a significant chromosomal structural abnormality, chromosomal inversion is closely related to male infertility. For inversion carriers, the interchromosomal effect explains male infertility, but its specific mechanism remains unclear. Additionally, inversion carriers with different chromosomes have different clinical manifestations. Therefore, genetic counseling is difficult in clinical practice. Herein, four male carriers of pericentric inversion in chromosome 6 have been described. Two patients showed asthenospermia, one showed azoospermia, and the wife of the remaining patient had recurrent miscarriages. Through a literature search, the association between the breakpoint of pericentric inversion in chromosome 6 and male fertility problems are also discussed in this study. Overall, important genes related to asthenospermia in chromosome 6p21 were found, which may be related to the clinical phenotype. These results suggest that physicians should focus on the breakpoints of inversion in genetic counseling.
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spelling pubmed-87730132022-02-01 Pericentric inversion of chromosome 6 and male fertility problems Fan, Haitao Liu, Zhe Zhan, Peng Jia, Guoliang Open Med (Wars) Research Article As a significant chromosomal structural abnormality, chromosomal inversion is closely related to male infertility. For inversion carriers, the interchromosomal effect explains male infertility, but its specific mechanism remains unclear. Additionally, inversion carriers with different chromosomes have different clinical manifestations. Therefore, genetic counseling is difficult in clinical practice. Herein, four male carriers of pericentric inversion in chromosome 6 have been described. Two patients showed asthenospermia, one showed azoospermia, and the wife of the remaining patient had recurrent miscarriages. Through a literature search, the association between the breakpoint of pericentric inversion in chromosome 6 and male fertility problems are also discussed in this study. Overall, important genes related to asthenospermia in chromosome 6p21 were found, which may be related to the clinical phenotype. These results suggest that physicians should focus on the breakpoints of inversion in genetic counseling. De Gruyter 2022-01-19 /pmc/articles/PMC8773013/ /pubmed/35111972 http://dx.doi.org/10.1515/med-2022-0411 Text en © 2022 Haitao Fan et al., published by De Gruyter https://creativecommons.org/licenses/by/4.0/This work is licensed under the Creative Commons Attribution 4.0 International License.
spellingShingle Research Article
Fan, Haitao
Liu, Zhe
Zhan, Peng
Jia, Guoliang
Pericentric inversion of chromosome 6 and male fertility problems
title Pericentric inversion of chromosome 6 and male fertility problems
title_full Pericentric inversion of chromosome 6 and male fertility problems
title_fullStr Pericentric inversion of chromosome 6 and male fertility problems
title_full_unstemmed Pericentric inversion of chromosome 6 and male fertility problems
title_short Pericentric inversion of chromosome 6 and male fertility problems
title_sort pericentric inversion of chromosome 6 and male fertility problems
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8773013/
https://www.ncbi.nlm.nih.gov/pubmed/35111972
http://dx.doi.org/10.1515/med-2022-0411
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