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  • 1
    Electronic Resource
    Electronic Resource
    Infertility in human males with autosomal translocations: meiotic study of a 14;22 Robertsonian translocation (1990)
    Springer
    Human genetics 〈Berlin〉 86 (1990), S. 162-166 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Pachytene analysis was undertaken in a male patient heterozygous for a 14q22q Robertsonian translocation. The relatively low rate of XY autosome association led us to examine the relationships existing between the chromosomes involved in the translocation, the rate of XY-autosome association and the degree of spermatogenic failure. Cytogenetic investigations in infertile men and the results of the meiotic studies suggest a direct correlation between the frequency of XY-autosome association at pachytene and the degree of spermatogenic failure. Whether associations arise as a consequence or cause of germ cell failure is still not certain.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00197698
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  • 2
    Electronic Resource
    Electronic Resource
    Three dimensional reconstruction of human pachytene spermatocyte nuclei of a 17;21 reciprocal translocation carrier: study of XY-autosome relationships (1991)
    Springer
    Human genetics 〈Berlin〉 87 (1991), S. 709-715 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A study of XY-autosome relationships at the pachytene stage in an infertile 17–21 reciprocal translocation carrier was undertaken by means of three dimensional reconstruction. Synaptonemal complexes and the sex vesicle were analysed on electron microscopic serial sections and the reconstruction was performed on transparent sheets and on a Samba 2000 (Alcatel TITN) image analysis system. All asynapsed segments were entirely included in the sex vesicle, the chromatin fibre of the autosomes and sex chromosomes being tightly intermingled. In one nucleus, the four arms of the quadrivalent were paired, except around the breakpoints where an interstitial asynapsis was observed. In the other nuclei, a terminal asynapsis involving one or two arms of the quadrivalent was found. In the sex vesicle, autosomal asynapsed segments showed the same morphological characteristics as those of X and Y chromosomes. This observation agrees with the hypothesis of the extension of gene inactivation from sex chromosomes to autosomes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201730
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  • 3
    Electronic Resource
    Electronic Resource
    Complete pachytene chromomere karyotypes of human spermatocyte bivalents (1984)
    Springer
    Human genetics 〈Berlin〉 66 (1984), S. 267-271 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Well-spread human pachytene spermatocyte bivalents were obtained allowing specific identification of each bivalent within its total complement according to its chromomere sequence combined with further staining of its centromeric heterochromatin. The total number of chromomeres was found to be related to the degree of bivalent contraction: 396 in condensed bivalents and 511 in decondensed bivalents. A striking correspondance between chromomeres and mitotic G-bands was observed; on account of the variability of bivalent contraction, condensed bivalents corresponded to prometaphase somatic chromosomes and decondensed bivalents to mid/late prophase chromosomes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00286614
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  • 4
    Electronic Resource
    Electronic Resource
    Synapsis and synaptic adjustment in an infertile human male heterozygous for a pericentric inversion in chromosome 1 (1986)
    Springer
    Human genetics 〈Berlin〉 72 (1986), S. 148-152 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Synapsis and “synaptic adjustment” were analyzed, using electron microscopy in silver stained surface microspreads of inversion-bearing spermatocytes, in an infertile human male with an inherited pericentric inversion in chromosome 1. Possible reasons for his infertility are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00283934
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  • 5
    Electronic Resource
    Electronic Resource
    Loop formation and synaptic adjustment in a human male heterozygous for two pericentric inversions (1986)
    Springer
    Chromosoma 93 (1986), S. 313-320 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Pachytene analysis was undertaken in an infertile male heterozygous for two pericentric inversions of chromosomes 1 and 9. The synaptic behaviour of the bivalent 1 inversion was the most informative. Analysis of the chromomere pattern combined with centromeric heterochromatin staining allowed precise description of synaptic initiation and extension leading to the homosynapsed loop. These techniques also allowed demonstration of the existence of heterosynapsis following alignment of the inverted segments. Non-homologous synapsed bivalents had the morphological aspects of straight bivalents with two distant blocks of centromeric heterochromatin. The numbering of the autosomal bivalent chromomeres at various successive phases of the inversion loop behaviour of bivalent 1 permitted us an alternative approach to the timing of pachytene.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00327589
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  • 6
    Electronic Resource
    Electronic Resource
    Differential elongation of autosomal pachytene bivalents related to their DNA content in human spermatocytes (1988)
    Springer
    Chromosoma 97 (1988), S. 19-25 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The establishment of the complete karyotype of human pachytene spermatocytes reveals differences in stretching of chromosomes between meiosis and mitosis. Bivalents or specific regions of bivalents which exhibit many R-bands are particularly elongated. In mitotic chromosomes, the DNA contained in such bands is known to be early replicating. The study of variations in the total length and the centromeric index of bivalent 1 suggests that differential elongation of pachytene bivalents is a premeiotic event, taking place during the last DNA replication.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00331791
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  • 7
    Electronic Resource
    Electronic Resource
    Pachytene analysis in a 17;21 reciprocal translocation carrier: role of the acrocentric chromosomes in male sterility (1987)
    Springer
    Human genetics 〈Berlin〉 77 (1987), S. 246-250 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Pachytene analysis was undertaken in an infertile male, heterozygous for a 17;21 reciprocal translocation. The quadrivalent was identified by its configuration and chromomere pattern. A non-random association was found between the quadrivalent and the sex vesicle in 77% of the pachytene nuclei analysed. In 13.1% of the cells the contact with the sex vesicle was established by the terminal chromomere of the two chromosomes 21; in 63.9% of the cells, the entire region of the breakpoints was completely hidden by the sex vesicle. In some nuclei asynapsis was found in the region of the breakpoints. The nature of the contact between the quadrivalent and the sex vesicle is discussed in this paper. It is proposed that the acrocentric chromosome favours the contact between the quadrivalent and the sex vesicle, and increases the risk of sterility in male carriers of Robertsonian translocations and of reciprocal translocations involving one acrocentric chromosome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00284478
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  • 8
    Electronic Resource
    Electronic Resource
    Differential associative behaviour of mitotic and meiotic acrocentric chromosomes (1989)
    Springer
    Human genetics 〈Berlin〉 82 (1989), S. 35-39 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A comparative study of the association of mitotic acrocentric chromosomes and acrocentric bivalents at the pachytene stage shows that at least two factors can act in the associative behaviour of these chromosomes: (1) Nor activity and (2) the presence of satellite DNA in the short arms of these chromosomes. These factors do not act with the same intensity in the two cell lines studied. In lymphocytes, Nor activity prevails, whereas satellite DNA plays the main role in the association of acrocentric chromosomes in germ cells at the pachytene stage.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00288268
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  • 9
    Electronic Resource
    Electronic Resource
    Bivalent 15 Regularly Associates With the Sex Vesicle in Normal Male Meiosis (1999)
    Springer
    Chromosome research 7 (1999), S. 369-378 
    Details
    ISSN: 1573-6849
    Keywords: human bivalent 15 ; meiosis ; sex vesicle
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Using fluorescent in-situ hybridization, we investigated the positioning of different human bivalents at the pachytene stage of normal male meiosis. We showed that, in about 35% of nuclei, the pericentromeric region of bivalent 15 is closely associated with the sex vesicle (SV). This behaviour may be linked to the presence of three domains in the pericentromeric region of chromosome 15: a large imprinted domain, a nucleolar organizing region (NOR), and a heterochromatic block. In order to define the domains of chromosome 15 involved in this association, we analysed the meiotic behaviour of other bivalents with similar domains: human bivalent 11 and mouse bivalent 7, bearing imprinted domains, other human acrocentric bivalents bearing a NOR, and the human bivalents 1, 9 and 16 containing a heterochromatic region. None of these bivalents were as frequently associated with the SV as the human bivalent 15. Nevertheless, we suggest that the bivalent 15 heterochromatin may be responsible for the association because of two properties: its telomeric location on chromosome 15 and its strong sequence homology with the Yq heterochromatin. This phenomenon could explain the high frequency of translocations between the chromosome 15 and the X or Y chromosomes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1009268014387
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  • 10
    Electronic Resource
    Electronic Resource
    Organization of the X and Y chromosomes in human, chimpanzee and mouse pachytene nuclei using molecular cytogenetics and three-dimensional confocal analyses (2000)
    Springer
    Chromosome research 8 (2000), S. 571-584 
    Details
    ISSN: 1573-6849
    Keywords: chimpanzee ; chromatin condensation ; human ; mouse ; XY body
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract We used multicolour fluorescence in-situ hybridization on air-dried pachytene nuclei to analyse the structural and functional domains of the sex vesicle (SV) in human, chimpanzee and mouse. The same technology associated with 3-dimensional analysis was then performed on human and mouse pachytene nuclei from cytospin preparations and tissue cryosections. The human and the chimpanzee SVs were very similar, with a consistently small size and a high degree of condensation. The mouse SV was most often seen to be large and poorly condensed, although it did undergo progressive condensation during pachynema. These results suggest that the condensation of the sex chromosomes is not a prerequisite for the formation of the mouse SV, and that a different specific mechanism could be responsible for its formation. We also found that the X and Y chromosomes are organized into two separate and non-entangled chromatin domains in the SV of the three species. In each species, telomeres of the X and Y chromosomes remain clustered in a small area of the SV, even those without a pseudoautosomal region. The possible mechanisms involved in the organization of the sex chromosomes and in SV formation are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1009277722579
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