Reciprocal translocation and Robertsonian translocation in relation to semen parameters: A retrospective study and systematic review

Chen, Xiaochuan; Zhou, Canquan

doi:10.1111/and.14262

Cited by 13 publications

(15 citation statements)

References 42 publications

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“…In our previous study, we showed that sperm concentration, total number per ejaculate, total motility, progressive motility of autosomal reciprocal translocation carriers was statistically lower than normal karyotype carriers (Chen & Zhou, 2022) 1a,b), which were consistent with previous study (Bache et al, 2004). A total of 710 kinds of breakpoints in the 753 reciprocal translocation carriers.…”

supporting

confidence: 90%

The most common recurrent reciprocal translocation: T(11; 22)(q23; q11)

Chen

et al. 2022

Andrologia

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Dear Editor, Genetic abnormalities occur in approximately 15% of male infertility cases, including mutations in DNA and changes in structure or number of chromosomes (Ferlin et al., 2007). Reciprocal translocation is the most common structural chromosomal aberration that occurs in humans, affecting approximately two out of every 1000 babies born (Forabosco et al., 2009;Nielsen & Wohlert, 1991). Reciprocal translocation carriers usually suffer reproductive problems such as infertility, recurrent miscarriage or pregnancy loss resulting from unbalanced gametes (O'Flynn O'Brien et al., 2010). The chromosomal breakpoints or rearrangements in reciprocal translocation carriers might affect the expression or function of genes, promoters or enhancers involved in spermatogenesis or sperm maturation, leading to spermatogenic, maturation disorders or even male infertility (Krausz & Riera-Escamilla, 2018). However, there are limited studies reporting the distribution of breakpoints in reciprocal translocation carriers.

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confidence: 90%

The most common recurrent reciprocal translocation: T(11; 22)(q23; q11)

Chen

et al. 2022

Andrologia

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“…[ 24 , 25 ] The difference of these semen parameters depends on the specific chromosome and breakpoints involved in translocation. [ 5 , 24 , 26 ]…”

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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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“…RCT is a significant structural genetic abnormality that is closely related to male infertility. [ 12 ] In clinical practice, the phenotypic characteristics of male RCT carriers are varied. Some carriers could have offspring with normal phenotypes without any fertility problems.…”

Section: Discussionmentioning

confidence: 99%

“…Wang et al [ 11 ] reported that several RCT breakpoints disrupt genes ( Nucleoporin, 155-KD, Fibronectin type III domain-containing protein 3A and Dpy19-like 1 ) related to male infertility. 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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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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Reciprocal translocation and Robertsonian translocation in relation to semen parameters: A retrospective study and systematic review

Cited by 13 publications

References 42 publications

The most common recurrent reciprocal translocation: T(11; 22)(q23; q11)

The most common recurrent reciprocal translocation: T(11; 22)(q23; q11)

Association between chromosome 22q11.2 translocation and male oligozoospermia

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

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