Biomedical subjects
Publications and source records attributed to C Templado.
We describe a method of observing human sperm metaphases by sequential transmission and scanning electron microscopy. This permits the analysis of ultrastructural aspects of sperm chromosomes and allows the relationship between ultrastructure, heterochromatin condensation, and the behaviour and staining properties of sperm chromosomes and heterochromatic regions to be determined.
G-banded human sperm chromosomes are routinely obtained in our laboratory using a modification of the method described by Martin et al. (1982). The study of banded sperm chromosomes is essential for the genetic counseling of male carriers of balanced chromosome rearrangements.
In this paper we describe a new synaptic anomaly characterized by the presence of irregular synaptonemal complexes (SCs) in two sterile patients.
An improved technique for the study of meiosis in ejaculate allows one to obtain a diagnosis in 58.1% of cases. We describe the results of the first 50 consecutive infertile or sterile males studied.
Synaptonemal complex studies can be carried out in the spermatogenic cells present in the ejaculate. The technique could advantageously avoid the need for a testicular biopsy for synaptic analysis and it is an excellent complement to classical meiotic studies in semen.
Mitotic and meiotic chromosome studies and synaptonemal complex analyses by light and electron microscopy have been carried out in a selected series of 47 infertile or sterile males with highly abnormal seminograms, affecting the number of spermatozoa, their morphology and/or motility. In 46 cases, the karyotype was 46,XY. One patient had a 13/14 translocation. With the exception of the patient with a 13/14 translocation, and three patients with desynapsis (8.5%), all other cases showed either normal or absent metaphase I figures. However, synaptonemal complex analysis by light and electron microscopy demonstrated the presence of pairing anomalies (desynapsis, fragmented or irregular synaptonemal complexes) in 31.9% of the patients studied. The total number of synaptic anomalies observed (40.4%) is higher than in a former light microscopy study of 111 infertile or sterile patients (28.8%) probably because the higher resolution of the electron microscope permits the characterization of some anomalies that cannot be detected with the light microscope. The electron microscope should therefore be used in all cases in which the light microscope provides doubtful results.
Meiotic and synaptonemal complex studies by light and electron microscopy have been carried out in two infertile males with a balanced 13/14 translocation. As expected, all metaphase I figures in conventional meiotic preparations contained a chain trivalent. Synaptonemal complex studies showed typical trivalent images with incomplete pairing of the acrocentric elements in the cis configuration. A review of the literature shows that the fertility of these patients is quite variable. All of them show a slightly reduced number of chiasmata (mean 46.6). Pairing in cis, as detected by electron microscopic studies, does not seem to have a prognostic value.
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We describe in this paper the human male synaptic cycle using light and electron microscopy and the distribution of cells in the different stages of prophase I. The pattern of chromosome pairing and synapsis is an important tool to determine accurately whether a given synaptic behavior in infertile or sterile men is really abnormal or not. The relationship of prepachytene to pachytene cells is also important for the diagnosis of the different types of meiotic arrest at the primary spermatocyte level.
We describe the results of synaptonemal complex (SCs) studies by light (LM) and electron microscopy (EM) in a sterile 46,XY/47,XXY male mosaic. Meiotic studies showed an arrest at the first spermatocyte level. Pachytene figures showed three types of cells: (1) cells with normal SCs, normal sex vesicle, and a 23,XY constitution; (2) cells with no sex vesicle, normal pairing of SCs, and a 24, (?) constitution; and (3) cells with a normal sex vesicle and fragmented SCs.
Meiotic studies have been carried out in a series of 1100 infertile and sterile males. Of these, 599 cases have been studied in testicular biopsy, and 501, in semen samples. This is the largest meiotic series published so far. The incidence of meiotic anomalies was 4.3%. The most frequent chromosome abnormality was desynapsis (3.7%). However, the number of cases with a meiotic arrest, usually due (73.9%) to synaptic anomalies in prophase I, was much higher (18.4%). An attempt is made to correlate the incidence of meiotic anomalies with the results of semen analysis. We discuss the prognosis of desynapsis, based on 41 cases studied, and reevaluate the results obtained in semen samples as compared with our previous results.
We describe the results of meiotic and synaptonemal complex (SC) studies in a selected series of 45 subfertile males with different meiotic and seminal alterations. SC anomalies (pairing anomalies, fragmented SCs, or presynaptic arrest) were observed in 32 cases (71.1%). In 31% of the abnormal cases, meiotic anomalies could only be detected through the study of SCs. The origin of synaptic anomalies may be related to the assembly of myosin molecules along the chromosomes. SC analysis should become routine in the study of subfertile males.
Meiotic studies in a sterile carrier of a 14/21 translocation showed a meiotic arrest, with degeneration of primary spermatocytes. Silver staining of pachytene cells revealed the presence of a trivalent. Its synaptonemal complex was quite similar to that described in previous light and electron microscopy studied in mammalian species. The observation of a trivalent with pairing in trans-configuration and the presence of desynaptic synaptonemal complexes in early pachytene could explain the relatively high incidence of non-disjunction in human D/G translocations and the spermatogenic disintegration sometimes seen in these cases.
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The meiotic behaviour of two male human reciprocal translocations is described. One patient had an unbalanced son and a chain configuration. The second had a stillborn child and a ring corresponding to an adjacent I segregation. The meiotic behaviour of chromosomal rearrangements must be investigated for proper genetic counselling.
We describe a reciprocal translocation (10;13) in a man, ascertained through the study of meiosis in semen, and a partial trisomy 10q in his abnormal son. The phenotypic anomalies of the partial 10q trisomy syndrome are probably due to the presence in triplicate of the region q25 = to qter of chromosome 10.
Meiotic studies can be carried out in the spermatogenic cells present in ejaculate. Using this technique, we identified one man with a reciprocal translocation and six oligochiasmatic males among 180 patients studied. The technique is easy and reliable; good-quality figures can be obtained, and meiotic studies can be carried out as often as needed.
Three new cases of low chiasma frequency in infertile men are described. In the first case, all cells showed abnormal diakineses; in the second, 20% of the diakineses were desynaptic, while the remaining 80% were normal; in the third, all diakineses were desynaptic and showed chromosome fragmentation. The possible mechanisms leading to asynapsis, desynapsis or precocious chiasma terminalization are discussed.