A complex rearrangement involving three autosomes in a phenotypically normal male presenting with sterility

Joseph, Ann Mary; Thomas, Irene

doi:10.1136/jmg.19.5.375

Cited by 39 publications

(19 citation statements)

References 17 publications

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“…1974: Chandlcy el al. 1976: Searle ct al, 1978Chandlcy, 1981: Joseph andThomas. 1982;Johannisson et al in a person with a reciprocal 14:21 translocation, personal communication): ring chro mosomes (Mcllree ct al, 1966: Moreau andTeyssicr, 1982): bisatellited microchromosomes (Smith et al 1965: Hulten et al 1966: Kjessler.…”

Section: Conditions Conducive To Chromosomally-derived Male Sterilitymentioning

confidence: 99%

Meiotic association between the XY chromosomes and unpaired autosomal elements as a cause of human male sterility

Rosenmann

Wahrman

Richler

et al. 1985

Cytogenet Genome Res

119

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Intimate association between autosomal translocation trivalents and XY bivalents at pachytene was observed in a majority of cells of two men ascertained through primary sterility and found to be heterozygous for a 14;21 Robertsonian translocation. The association, studied by light and electron microscopy of spread first spermatocytes, was between the unpaired short arms of the normal chromosomes of the translocation trivalent and the differential axes of the XY chromosomes. In a minority of cells, this contact was not established, or not maintained, as alternative combinations between the elements available for non-homologous pairing were realized. Following a suggestion of Lifschytz and Lindsley (1972), sterility in these patients was attributed to spermatogenic arrest caused by physical contact of sex chromosomes with autosomal material and consequent interference with the normal metabolism of the sex chromosomes. Autosomal aberrations and polymorphisms, which lead to the presence of unpaired segments at meiosis, may thus play a critical role in a general mechanism of chromosomally-derived male sterility. It is proposed that such a mechanism may also be instrumental in the initiation of reproductive barriers in nature.

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Section: Conditions Conducive To Chromosomally-derived Male Sterilitymentioning

confidence: 99%

Meiotic association between the XY chromosomes and unpaired autosomal elements as a cause of human male sterility

Rosenmann

Wahrman

Richler

et al. 1985

Cytogenet Genome Res

119

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“…The overall risk for an unbalanced pregnancy outcome is slightly above 50% (Gorski et al, 1988). The vast majority of carriers of balanced CCRs detected by recurrent abortions or the birth of an abnormal child are females (Gorski et al, 1988;Batista et al, 1994;Madan et al, 1997), confirming the well documented frequent infertility or subfertility in male carriers (Joseph and Thomas, 1982;Rodriguez et al, 1985;Johannisson et al, 1987). As causes for male infertility disturbed spermatogenesis as well as pre-or postimplantation loss were suggested (Saadallah and Hulten, 1985;Madan et al, 1997;Joyce et al, 1999).…”

confidence: 57%

“…The vast majority of male carriers show reduction in fertility (Joseph and Thomas, 1982;Rodriguez et al, 1985). Disturbances in spermatogenesis as well as pre-and post-implantation losses are discussed as reasons for that phenomenon (Saadallah and Hulten, 1985;Madan et al;Joyce et al, 1999).…”

Section: Discussionmentioning

confidence: 99%

A complex chromosomal rearrangement with a translocation 4;10;14 in a fertile male carrier: ascertainment through an offspring with partial trisomy 14q24→1q22 and partial monosomy 4q27→q28

Grasshoff

Singer

Liehr

et al. 2003

Cytogenet Genome Res

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Complex chromosomal rearrangements (CCRs) are usually associated with infertility or subfertility in male carriers. If fertility is maintained, there is a high risk of abnormal pregnancy outcome. Few male carriers have been identified by children presenting with mental retardation/congenital malformations (MR/CM) or by spontaneous abortions of the spouses. We report a de novo CCR with five breakpoints involving chromosomes 4, 10 and 14 in a male carrier who was ascertained through a son presenting with MR/CM due to an unbalanced karyotype with partial trisomy 14 and partial monosomy 4. The child has a healthy elder brother. In the family history no abortions were reported. No fertility treatment was necessary. Cytogenetic analysis from the affected son showed a reciprocal translocation t(4;10) with additional chromosomal material inserted between the translocation junctions in the derivative chromosome 10. The father showed the same derivative chromosome 10 but had additionally one aberrant chromosome 14. Further molecular cytogenetic analyses determined the inserted material in the aberrant chromosome 10 as derived from chromosome 14 and revealed a small translocation with material of chromosome 4 inserted into the derivative chromosome 14. Thus the phenotype of the son is supposed to be associated with a partial duplication 14q13→q24.1 and a partial monosomy 4q27→q28. Including our case we are aware of eleven CCR cases with fertile male carriers. In eight of these families normal offspring have been reported. We propose that exceptional CCRs in fertile male carriers might form comparatively simple pachytene configurations increasing the chance of healthy offspring.

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“…Several theories concerning the mechanism of autoso mal translocation on spermatogenic failure have been proposed; position effect [6], low chiasma count [7], impaired synapsis [8] and perturbed inactivation of the YX bivalent [9]. However, formal evidence for these the ories is still lacking.…”

Section: Discussionmentioning

confidence: 99%

Robertsonian Translocation Associated with Azoospermia

Sasagawa

Nakada²,

Terada³

et al. 1989

Urol Int

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A complex rearrangement involving three autosomes in a phenotypically normal male presenting with sterility

Cited by 39 publications

References 17 publications

Meiotic association between the XY chromosomes and unpaired autosomal elements as a cause of human male sterility

Meiotic association between the XY chromosomes and unpaired autosomal elements as a cause of human male sterility

A complex chromosomal rearrangement with a translocation 4;10;14 in a fertile male carrier: ascertainment through an offspring with partial trisomy 14q24→1q22 and partial monosomy 4q27→q28

Robertsonian Translocation Associated with Azoospermia

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