Clinical features of infertile men carrying a chromosome 9 translocation

Yu, Yang; Wang, Qiyuan; Jiang, Yuting; Li, Linlin; Zhu, Haibo; Zhang, Hongguo

doi:10.1515/med-2019-0100

Cited by 6 publications

(6 citation statements)

References 79 publications

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“…Some carriers could have offspring with normal phenotypes without any fertility problems. [ 13 ] Others were diagnosed with abnormal sperm parameters. [ 4 , 14 , 32 , 33 ] During spermatogenesis, spermatogenic cells complete meiosis.…”

Section: Discussionmentioning

confidence: 99%

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Analysis of 2 men with t(8;22)(q13;q13) and t(8;14)(q13;q22) chromosomal translocation karyotypes

et al. 2022

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Male infertility is a multifactorial condition that is closely associated with chromosomal abnormalities. Reciprocal chromosomal translocation (RCT) is a significant structural genetic abnormality. The specific mechanisms of forms of RCT affecting male infertility include the product of chromosomally unbalanced gametes, thereby disrupting the structure and function of important genes responsible for spermatogenesis. RCT breakpoints have been found to disrupt gene structure and function in many medical fields However, the relationship between RCT breakpoints and male infertility remains to be determined. The purpose of this study is to describe 2 male carriers of RCTs 46,XY,t(8;22)(q13;q13) and 46,XY,t(8;14)(q13;q22). Both patients were collected from the second hospital of Jilin University. Semen parameters were detected using the computer-aided semen analysis system. Cytogenetic analysis was performed using standard operating procedure. Related genes on chromosomal breakpoints were searched using Online Mendelian Inheritance in Man. One man had semen parameters within the normal range, but the couple was infertile after 5 years of marriage. The other man showed normal semen parameters, and his wife had experienced 2 spontaneous miscarriages. Using a literature search, the association between chromosome 22q13 breakpoint and fertility were investigated. The results suggest that physicians should focus on the clinical phenotype of the patients and the breakpoints of RCT in genetic counseling. An important gene related to human male infertility is clearly located in chromosome region 22q13, and its function is worthy of further study.

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Section: Discussionmentioning

confidence: 99%

“…Chen et al [ 12 ] also reported that some RCT breakpoints can disrupt important genes involved in spermatogenesis. Although some RCT breakpoints have been reviewed, [ 13 , 14 ] the relationship between other RCT breakpoints and infertility remains to be determined.…”

Section: Introductionmentioning

confidence: 99%

Analysis of 2 men with t(8;22)(q13;q13) and t(8;14)(q13;q22) chromosomal translocation karyotypes

et al. 2022

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“…The couple was recalled to perform karyotype analysis because of abnormality of the fetal chromosome. Chromosomal analysis was performed as described in our previous study [ 11 ].…”

Section: Methodsmentioning

confidence: 99%

Fertility problems in males carrying an inversion of chromosome 10

et al. 2021

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Chromosomal inversion is closely related to male infertility. Inversion carriers may produce abnormal gametes, which may lead to partial duplication/deletion of the embryonic chromosome and result in spontaneous abortion, a fetus with multiple anomalies, or birth of a malformed child. Genetic counselling remains challenging for these carriers in clinical practice. We report two male carriers with inversion of chromosome 10 and review 26 reported cases. In the first case, 46,XX,inv(10)(p13q22) of the fetal chromosome was found in prenatal diagnosis; this was inherited from the paternal side with 46XY,inv(10)(p13q22). Another case was a male carrier with inv(10)(q21.2q22.1). There have been 25 (89.3%) cases of pericentric inversion and three (10.7%) cases of paracentric inversion involving chromosome 10. Of 28 cases, nine were associated with pregestational infertility of the couples, while the other 19 cases were associated with gestational infertility of the couples or normozoospermia. The breakpoints at 10p15, 10p11, 10q11, and 10q21 were associated with pregestational infertility of the couples. The breakpoints at 10p15, 10p14, 10p13, 10p12, 10p11, 10q11, 10q21, 10q22, 10q23, 10q24, 10q25, and 10q26 were related to gestational infertility of the couples or normozoospermia. Although there is a high risk of infertility or recurrent miscarriages, carriers with inversion of chromosome 10 might produce healthy offspring. Natural pregnancy can be used as a choice for inversion carriers with recurrent spontaneous abortion.

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“…[5] A large number of studies showed that balanced translocation may reduce fertility due to the production of unbalanced gametes. [7][8][9][10] Some studies showed that the breakpoint of chromosome translocation may disrupt or dysregulate important genes related to spermatogenesis, which lead to infertility. [7,11] The relationship between some breakpoints of chromosome and male infertility has been reported.…”

Section: Introductionmentioning

confidence: 99%

Association between chromosome 22q11.2 translocation and male oligozoospermia

et al. 2022

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Chromosomal aberrations in peripheral blood are a major cause of reproductive disorders for the infertile couples. Reciprocal translocation is closely related to male infertility. The breakpoint of translocation may disrupt or dysregulate important genes related to spermatogenesis. The relationship between some breakpoints of chromosome and male infertility has been paid attention. Chromosome 22q11.2 translocation has not been reported with male infertility. The purpose of this study is to evaluate the relationship between chromosome 22q11.2 translocation and male infertility. All patients were collected from the second hospital of Jilin University. Semen parameters were detected using the computer-aided semen analysis system. Cytogenetic analysis was performed using standard operating procedure. Related genes on chromosomal breakpoints were searched using online mendelian inheritance in man (OMIM). The association between this breakpoint and spermatogenesis is also discussed. We report 6 cases of translocation in chromosome 22. Of 7 breakpoints involved in these translocations, the common feature is that they all included chromosome 22q11.2 translocation and presented with oligozoospermia. The analysis of breakpoint related genes showed testis-specific serine/threonine kinase 2 ( TSSK2 ) gene is associated with human spermatogenesis impairment. Overall, these results suggest that the breakpoint involved in translocation deserves attention from physicians in genetic counseling. The breakpoint rearrangement has the possibility of disrupting spermatogenesis. The relationship between 22q11.2 breakpoint and male infertility deserves further study.

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Clinical features of infertile men carrying a chromosome 9 translocation

Cited by 6 publications

References 79 publications

Analysis of 2 men with t(8;22)(q13;q13) and t(8;14)(q13;q22) chromosomal translocation karyotypes

Analysis of 2 men with t(8;22)(q13;q13) and t(8;14)(q13;q22) chromosomal translocation karyotypes

Fertility problems in males carrying an inversion of chromosome 10

Association between chromosome 22q11.2 translocation and male oligozoospermia

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