Y-autosome translocation and infertility: usefulness of molecular, cytogenetic and meiotic studies

Delobel, Bruno; R, Djlelati; Gabriel-Robez, O.; Croquette, Marie‐Françoise; Rousseaux-Prévost, Roselyne; Rousseaux, J.; Rigot, Jean-Marc; Rumpler, Y.

doi:10.1007/s004390050660

Cited by 60 publications

(52 citation statements)

References 27 publications

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“…In addition, pairing of both chromosomes 13, initiated from telomeres, may also interfere with the formation of the XY body. 21,22 In the present study, an abnormal segregation of the (Y;13) was found during meiosis I, as only 13.6% of the secondary spermatocytes showed a normal chromosome complement. In this situation, most of the abnormal secondary spermatocytes might become arrested and degenerated, 18 which explains why the large majority of the round spermatids were normal (70%), as were in consequence most of the sperm (85.1%).…”

Section: Discussionsupporting

confidence: 50%

“…In the case of an X or Y/autosome translocation, a translocated chromosome will be included in the compartment of the XY body and inactivation may extend to the autosomal segment yielding degeneration of most spermatocytes after the pachytene stage. 21,22 The PAR1 (at XpYp) represents the region for sex-chromosome recombination and must be intact in order to promote meiotic pairing and ensure sperm production. 23 -25 However, the fact that the PAR 1 region is intact does not necessarily imply that the meiotic pairing is normal, as telomere TTAGGG repeats, rather than subtelomeric sequences, play an important role in meiotic pairing.…”

Section: Discussionmentioning

confidence: 99%

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Unique (Y;13) translocation in a male with oligozoospermia: cytogenetic and molecular studies

et al. 2002

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The incidence of Y/autosome translocations is low. Whereas involvement of non-acrocentric chromosomes often leads to infertility, cases related with acrocentric chromosomes are usually familial with no or minimal effect on fertility. A de novo (Yp/13p) translocation was found in a 32-year-old male referred for severe oligozoospermia. Conventional cytogenetic procedures (GTG, CBG and NOR banding) and molecular cytogenetic techniques (Fluorescence In Situ Hybridization, FISH) were performed on high-resolution chromosomes obtained after peripheral blood lymphocyte culture as also on interphase nuclei of spermatogenic cells from semen samples. Screening of AZF microdeletions in the Yq11.2 region known to be involved with spermatogenesis defects was also performed. GTG banding showed a (Yp/13p) translocation in all scored metaphases. CBG and NOR staining of the derivative chromosome revealed the maintenance of Yq heterochromatin and of the 13p NOR region. FISH with centromeric Y and 13/21 probes, SRY specific probe and X/Y (p and q arms) sub-telomeric probes gave the expected number/location of fluorescent signals. Hybridisation with a pan-telomeric repeat (TTAGGG) probe showed an absence of the telomeric sequences at the fusion point of the rearranged chromosome. FISH analysis with probes to chromosomes X, Y, 13 and 18 showed an abnormal segregation of the translocated chromosome during meiosis I, which explains that only 13.6% of the secondary spermatocytes were normal. Most of these became arrested, as after meiosis II the large majority of the round spermatids were normal (70%), as were in consequence most of the sperm (85.1%). Multiplex-PCR confirmed the intactness of the SRY region and showed absence of AZF microdeletions. We report a novel de novo (Yp;13p) translocation characterised by loss of the 13p and Yp telomeres. Meiotic studies using FISH demonstrated meiosis I chromosome unpairing and mal segregation that justifies the severe oligozoospermia. Although most sperm have a normal chromosomal constitution, preimplantation genetic diagnosis should be considered an option for this patient.

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Section: Discussionsupporting

confidence: 50%

Section: Discussionmentioning

confidence: 99%

Unique (Y;13) translocation in a male with oligozoospermia: cytogenetic and molecular studies

et al. 2002

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“…This behavior is characterized morphologically by the initial condensation of the sex vesicle (SV) (DELOBEL et al 1998). According to LIFSCHYTZ and LINDSLEY (1972) normal spermatogenesis is assured by the asynchronic control of the X chromosome, as inactivation of genes connected with sex chromosome and autosomal genic activity during meiosis.…”

Section: Introductionmentioning

confidence: 99%

Sex-autosome translocations: meiotic behaviour suggests an inactivation block with permanence of autosomal gene activity in Phyllostomid bats

et al. 2001

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“…In the particular case of carriers of more rarely occurring Y-autosome translocations other factors such as the association of the heterochromatic region of the chromosome Y (Yqh), bearing the attached segment of the autosome, with the chromosome X via the sex-body during meiosis may affect the expression of genes that are vital for the completion of meiosis (12). This in turn would play an important role in determining the final meiotic outcome and the types of gametes produced.…”

Section: Resultsmentioning

confidence: 99%

Meiotic outcome in two carriers of Y autosome reciprocal translocations: selective elimination of certain segregants

Ghevaria

Naja

SenGupta

et al. 2018

Reproductive BioMedicine Online

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Background: Reciprocal Y autosome translocations are rare but frequently associated with male infertility. We report on the meiotic outcome in embryos fathered by two males with the karyotypes 46,X,t(Y;4)(q12;p15.32) and 46,X,t(Y;16)(q12;q13). The two couples underwent preimplantation genetic diagnosis (PGD) enabling determination of the segregation types that were compatible with fertilization and preimplantation embryo development. Both PGD and follow up analysis were carried out via fluorescence in situ hybridization (FISH) or array comparative genomic hybridization (aCGH) allowing the meiotic segregation types to be determined in a total of 27 embryos. Results: Interestingly, it was seen that the number of female embryos resulting from alternate segregation with the chromosome combination of X and the autosome from the carrier gamete differed from the corresponding balanced males with derivative Y and the derivative autosome by a ratio of 7:1 in each case (P = 0.003) while from the adjacent-1 mode of segregation, the unbalanced male embryos with the combination of der Y and the autosome were seen in all embryos from couple A and in couple B with the exception of one embryo only that had the other chromosome combination of X and derivative autosome (P = 0.011). In both cases the deficit groups have in common the der autosome chromosome that includes the segment Yq12 to qter. Conclusion:The most likely explanation may be that this chromosome is associated with the X chromosome at PAR2 (pseudoautosomal region 2) in the sex-body leading to inactivation of genes on the autosomal segment that are required for the meiotic process and that this has led to degeneration of this class of spermatocytes during meiosis.

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Y-autosome translocation and infertility: usefulness of molecular, cytogenetic and meiotic studies

Cited by 60 publications

References 27 publications

Unique (Y;13) translocation in a male with oligozoospermia: cytogenetic and molecular studies

Unique (Y;13) translocation in a male with oligozoospermia: cytogenetic and molecular studies

Sex-autosome translocations: meiotic behaviour suggests an inactivation block with permanence of autosomal gene activity in Phyllostomid bats

Meiotic outcome in two carriers of Y autosome reciprocal translocations: selective elimination of certain segregants

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