Chromosomal translocations and semen quality: A study on 144 male translocation carriers

Mayeur, Anne; Ahdad, Naouel; Hesters, Laëtitia; Brisset, Sophie; Romana, Serge; Tosca, Lucie; Tachdjian, Gérard; Frydman, Nelly

doi:10.1016/j.rbmo.2018.10.003

Cited by 23 publications

(20 citation statements)

References 35 publications

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“…It is theoretically assumed that spermatogenic impairment can be a consequence of a chromosomal imbalance generated as a result of a trivalent configuration during meiotic prophase I [6]. The accurate estimation of the percentage of infertile RobT carriers with normal spermiograms presents some difficulties, because the published calculations differ greatly, which may suggest the random sampling of too few analysed patients, e.g., 14.3% among 63 analysed carriers [79], 25.7% among 35 carriers [80], or 30.8% among 13 carriers [81]. In earlier reports, it was estimated that among RobT carriers for whom meiotic segregation patterns and ejaculate/spermiogram analysis data were available at the same time (i.e., approximately 80% of published data); approximately 18% of the patients were normozoospermic [43].…”

Section: Data Analysis Of Spermiograms In Robts Carriersmentioning

confidence: 99%

How much, if anything, do we know about sperm chromosomes of Robertsonian translocation carriers?

Wiland

Olszewska

Woźniak

et al. 2020

Cell. Mol. Life Sci.

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In men with oligozoospermia, Robertsonian translocations (RobTs) are the most common type of autosomal aberrations. The most commonly occurring types are rob(13;14) and rob(14;21), and other types of RobTs are described as ‘rare’ cases. Based on molecular research, all RobTs can be broadly classified into Class 1 and Class 2. Class 1 translocations produce the same breakpoints within their RobT type, but Class 2 translocations are predicted to form during meiosis or mitosis through a variety of mechanisms, resulting in variation in the breakpoint locations. This review seeks to analyse the available data addressing the question of whether the molecular classification of RobTs into Classes 1 and 2 and/or the type of DD/GG/DG symmetry of the involved chromosomes is reflected in the efficiency of spermatogenesis. The lowest frequency value calculated for the rate of alternate segregants was found for rob(13;15) carriers (Class 2, symmetry DD) and the highest for rob(13;21) carriers (Class 2, DG symmetry). The aneuploidy values for the rare RobT (Class 2) and common rob(14;21) (Class 1) groups together exhibited similarities while differing from those for the common rob(13;14) (Class 1) group. Considering the division of RobT carriers into those with normozoospermia and those with oligoasthenozoospermia, it was found that the number of carriers with elevated levels of aneuploidy was unexpectedly quite similar and high (approx. 70%) in the two subgroups. The reason(s) that the same RobT does not always show a similar destructive effect on fertility was also pointed out.

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Section: Data Analysis Of Spermiograms In Robts Carriersmentioning

confidence: 99%

How much, if anything, do we know about sperm chromosomes of Robertsonian translocation carriers?

Wiland

Olszewska

Woźniak

et al. 2020

Cell. Mol. Life Sci.

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“…Chromosome translocation is one of the genetic factors known to be associated with male infertility 12 . However, cases of Y chromosome/autosome translocation are rare 13 .…”

Section: Discussionmentioning

confidence: 99%

Molecular cytogenetic studies of a male carrier with a unique (Y;14) translocation: Case report

Chen

Zhang

et al. 2020

Clinical Laboratory Analysis

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Background Chromosome translocation is a genetic factor associated with male infertility. However, cases of Y chromosome/autosome translocation are rare. Individuals with translocation between the Y chromosome and an autosome have a variety of different clinical phenotypes. There is a need for further study of molecular cytogenetic feature of those with Y chromosome translocation. Methods We reported that an apparently healthy 31‐year‐old man, 168 cm tall and weighing 65 kg, had a 2‐year history of primary infertility after marriage. Clinical diagnostic techniques included semen analysis, hormone measurements, cytogenetic analysis, fluorescence in situ hybridization (FISH), and high‐throughput multiplex ligation‐dependent probe amplification semiconductor sequencing. Detailed genetic counseling was provided to the patient. Intracytoplasmic sperm injection treatment combined with preimplantation genetic diagnosis was chosen with the aim of achieving a successful pregnancy. Results Semen analysis revealed cryptozoospermia. Hormone levels were within the normal limits. Sequencing results indicated the presence of the sex‐determining region on Yp, and AZFa, AZFb, and AZFc regions on Yq. The patient's karyotype was 45,X,psu,dic(Y;14)(p11.3;q11.2), which was confirmed by cytogenetic analysis and FISH. Conclusion This study reports a case of cryptozoospermia in a male patient with a Y;14 chromosomal translocation. When clinical karyotyping has revealed potential Y chromosome abnormality, FISH or molecular detection should be further performed to facilitate identification of the chromosomal breakpoint.

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“…There are autosomal and sex chromosome translocations in balanced reciprocal translocations. Depending on the breakpoints, approximately 60% of the carriers of autosomal translocations have at least one abnormal parameter in their semen analysis 32 . Although the frequency of sex chromosome translocations is rare, some reports have shown an association between Y chromosome translocations and azoospermia 33‐35 …”

Section: Testing For Genetic Abnormality In Clinical Practicementioning

confidence: 99%

Genetic disorders and male infertility

Kuroda

Usui

Sanjo

et al. 2020

Reprod Medicine & Biology

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Infertility is defined as the inability to become pregnant after at least 1 year of regular intercourse without contraception. It is reported that approximately 8%-12% of couples in reproductive age are infertile, and male factors contribute to the infertility of those couples in approximately 50% of cases. 1 Azoospermia has been reported in approximately 1% of all men and in 10%-15% of infertile men. 2 According to this percentage, male infertility and azoospermia could be currently considered a common disease. Nonetheless, the majority of male infertilities are categorized as idiopathic, representing about 50% of all cases, and their causes are unknown. 3 Thus, one of the most important tasks for physicians and researchers engaged in reproductive medicine is to classify idiopathic male infertility based

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Chromosomal translocations and semen quality: A study on 144 male translocation carriers

Cited by 23 publications

References 35 publications

How much, if anything, do we know about sperm chromosomes of Robertsonian translocation carriers?

How much, if anything, do we know about sperm chromosomes of Robertsonian translocation carriers?

Molecular cytogenetic studies of a male carrier with a unique (Y;14) translocation: Case report

Genetic disorders and male infertility

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