Infertility in human males with autosomal translocations: meiotic study of a 14;22 Robertsonian translocation

Guichaoua, Marie-Roberte; Quack, B; Speed, R. M.; Noël, Bernard; Chandley, Ann C.; Luciani, J. M.

doi:10.1007/bf00197698

Cited by 61 publications

(43 citation statements)

References 23 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: 48%

“…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: 48%

Section: Discussionmentioning

confidence: 99%

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

et al. 2002

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“…The t(14;22) and t(13;21) are two rare Rob translocations, the meiotic segregation pattern in spermatozoa only have two and one reports available in the literature by now, respectively [11,12,27]. Our data showed that alternate segregation was largely dominant over adjacent segregations in the two uncommon Rob translocations carriers (patient 5 and patient 6).…”

Section: Discussionmentioning

confidence: 51%

Analysis of meiotic segregation patterns and interchromosomal effects in sperm from six males with Robertsonian translocations

Chen

Huang

Liu

et al. 2007

J Assist Reprod Genet

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Purpose To provide more genetic information about meiotic segregation behavior and the possibility of interchromosomal effects (ICE) in spermatozoa from carriers of Robertsonian (Rob) translocations. Materials and methods Meiotic segregation behavior in spermatozoa from six carriers of Rob translocations, four t(13;14), one t(14;22) and one t(13;21), was investigated by dual fluorescence in-situ hybridization (FISH). Aneuploidy for chromosomes 18, X and Y was studied by triple FISH. Results The rate of normal/balanced spermatozoa resulting from alternate segregation ranged from 78.14 to 86.88%. The frequency of unbalanced spermatozoa resulting from adjacent segregation varied between 11.70 and 19.53%. The higher frequencies of aneuploidy for sex chromosome were observed in three Rob translocation carriers. In addition, the increased rates of diploid were found in two t(13;14) carriers. Conclusions Alternate segregation is dominant in the different types of Rob translocations. Some carriers may be at an increased risk for ICE.

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“…ROB is also one of the major chromosomal aberrations encountered in infertile men after numerical sex chromosome anomalies (Tuerlings et al 1998). This structural rearrangement has variable impacts on spermatogenesis, including germ cell depletion by reduction of spermatocyte I survival potential (Guichaoua et al 1990). …”

Section: Introductionmentioning

confidence: 99%

Molecular cytogenetics analysis with whole chromosome paint probes of sperm nuclei from a (13;15) Robertsonian translocation carrier

Rives¹,

Ravel

Duchesne³

et al. 2005

J Hum Genet

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Meiotic segregation of a Robertsonian translocation (13;15) was assessed in sperm nuclei using dualcolor fluorescent in situ hybridization (FISH) with whole-chromosome paint probes. Most spermatozoa in the (13;15) translocation carrier resulted from alternate segregation. Although an increased frequency of unbalanced gametes was observed, spontaneous pregnancy led to the birth of a boy with a normal karyotype.

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Infertility in human males with autosomal translocations: meiotic study of a 14;22 Robertsonian translocation

Cited by 61 publications

References 23 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

Analysis of meiotic segregation patterns and interchromosomal effects in sperm from six males with Robertsonian translocations

Molecular cytogenetics analysis with whole chromosome paint probes of sperm nuclei from a (13;15) Robertsonian translocation carrier

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