Pericentric inversion in chromosome 1 and male infertility

Pericentric inversion in chromosome 1 was thought to cause male infertility through spermatogenic impairment, regardless of the breakpoint position. However, carriers of pericentric inversion in chromosome 1 have been reported with normal fertility and familial transmission. Here, we report two case...

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Bibliographic Details
Published in:Open medicine (Warsaw, Poland) Poland), 2020-01, Vol.15 (1), p.343-348
Main Authors: Li, Ranwei, Fan, Haitao, Zhang, Qiushuang, Yang, Xiao, Zhan, Peng, Feng, Shuqiang
Format: Article
Language:English
Subjects:
chromosome 1
Chromosomes
Genetic counseling
Infertility
male infertility
Males
pericentric inversion
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Summary:Pericentric inversion in chromosome 1 was thought to cause male infertility through spermatogenic impairment, regardless of the breakpoint position. However, carriers of pericentric inversion in chromosome 1 have been reported with normal fertility and familial transmission. Here, we report two cases of pericentric inversion in chromosome 1. One case was detected via amniocentesis, and the other case was detected after the wife of the carrier experienced two spontaneous abortions within 5 years of marriage. Here, the effect of the breakpoint position of the inversion in chromosome 1 on male infertility is examined and compared with the published cases. The association between the breakpoint of pericentric inversion in chromosome 1 and spermatogenesis is also discussed. Overall, the results suggest that the breakpoint position deserves attention from physicians in genetic counseling as inversion carriers can produce offspring.
ISSN:2391-5463
2391-5463
DOI:10.1515/med-2020-0404