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Meiotic behaviour of the sex chromosomes in three patients with sex chromosome anomalies (47,XXY, mosaic 46,XY/47,XXY and 47,XYY) assessed by fluorescence in-situ hybridization.
Hum Reprod. 2001 May; 16(5):887-92.HR

Abstract

Meiotic studies using multicolour fluorescent in-situ hybridization (FISH) and chromosome painting were carried out in three patients with sex chromosome anomalies (47,XXY; 46,XY/47,XXY and 47,XYY). In the two patients with Klinefelter syndrome, although variable percentages of XXY cells (88.5 and 28.3%) could be found in the pre-meiotic stages, none of the abnormal cells entered meiosis, and all pachytenes were XY. However, the abnormal testicular environment of these patients probably resulted in meiotic I non-disjunction, and a certain proportion of post-reductional cells were XY (18.3 and 1.7%). The fact that none of the spermatozoa were XY also suggests the existence of an arrest at the secondary spermatocyte or the spermatid level. In the XYY patient, most (95.9%) premeiotic cells were XYY. The percentage of XYY pachytenes was 57.9%. The sex chromosomes were either in close proximity (XYY) or the X chromosome was separated from the two Ys (X + YY). A high proportion (42.1%) of post-reductional germ cells were XY. However, only 0.11% of spermatozoa were disomic for the sex chromosomes. In this case, the data suggest the existence of an arrest of the abnormal cells at the primary and the secondary spermatocyte or the spermatid level, giving rise to the continuous elimination of abnormal cells in the germ-cell line along spermatogenesis. The fact that the proportion of diploid spermatozoa was only increased in one of the three cases (XXY) is also suggestive of an arrest of the abnormal cell lines in these patients. The two apparently non-mosaic patients were, in fact, germ-cell mosaics. This suggests that the cytogenetic criteria used to define non-mosaic patients may be inadequate; thus, the risk of intracytoplasmic sperm injection in apparently non-mosaics may be lower than expected.

Authors+Show Affiliations

Unitat de Biologia Cellular, Universitat Autònoma de Barcelona, 08193-Bellaterra (Cerdanyola del Vallès), Spain. Joan.Blanco@uab.esNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

11331634

Citation

Blanco, J, et al. "Meiotic Behaviour of the Sex Chromosomes in Three Patients With Sex Chromosome Anomalies (47,XXY, Mosaic 46,XY/47,XXY and 47,XYY) Assessed By Fluorescence In-situ Hybridization." Human Reproduction (Oxford, England), vol. 16, no. 5, 2001, pp. 887-92.
Blanco J, Egozcue J, Vidal F. Meiotic behaviour of the sex chromosomes in three patients with sex chromosome anomalies (47,XXY, mosaic 46,XY/47,XXY and 47,XYY) assessed by fluorescence in-situ hybridization. Hum Reprod. 2001;16(5):887-92.
Blanco, J., Egozcue, J., & Vidal, F. (2001). Meiotic behaviour of the sex chromosomes in three patients with sex chromosome anomalies (47,XXY, mosaic 46,XY/47,XXY and 47,XYY) assessed by fluorescence in-situ hybridization. Human Reproduction (Oxford, England), 16(5), 887-92.
Blanco J, Egozcue J, Vidal F. Meiotic Behaviour of the Sex Chromosomes in Three Patients With Sex Chromosome Anomalies (47,XXY, Mosaic 46,XY/47,XXY and 47,XYY) Assessed By Fluorescence In-situ Hybridization. Hum Reprod. 2001;16(5):887-92. PubMed PMID: 11331634.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Meiotic behaviour of the sex chromosomes in three patients with sex chromosome anomalies (47,XXY, mosaic 46,XY/47,XXY and 47,XYY) assessed by fluorescence in-situ hybridization. AU - Blanco,J, AU - Egozcue,J, AU - Vidal,F, PY - 2001/5/2/pubmed PY - 2001/7/28/medline PY - 2001/5/2/entrez SP - 887 EP - 92 JF - Human reproduction (Oxford, England) JO - Hum. Reprod. VL - 16 IS - 5 N2 - Meiotic studies using multicolour fluorescent in-situ hybridization (FISH) and chromosome painting were carried out in three patients with sex chromosome anomalies (47,XXY; 46,XY/47,XXY and 47,XYY). In the two patients with Klinefelter syndrome, although variable percentages of XXY cells (88.5 and 28.3%) could be found in the pre-meiotic stages, none of the abnormal cells entered meiosis, and all pachytenes were XY. However, the abnormal testicular environment of these patients probably resulted in meiotic I non-disjunction, and a certain proportion of post-reductional cells were XY (18.3 and 1.7%). The fact that none of the spermatozoa were XY also suggests the existence of an arrest at the secondary spermatocyte or the spermatid level. In the XYY patient, most (95.9%) premeiotic cells were XYY. The percentage of XYY pachytenes was 57.9%. The sex chromosomes were either in close proximity (XYY) or the X chromosome was separated from the two Ys (X + YY). A high proportion (42.1%) of post-reductional germ cells were XY. However, only 0.11% of spermatozoa were disomic for the sex chromosomes. In this case, the data suggest the existence of an arrest of the abnormal cells at the primary and the secondary spermatocyte or the spermatid level, giving rise to the continuous elimination of abnormal cells in the germ-cell line along spermatogenesis. The fact that the proportion of diploid spermatozoa was only increased in one of the three cases (XXY) is also suggestive of an arrest of the abnormal cell lines in these patients. The two apparently non-mosaic patients were, in fact, germ-cell mosaics. This suggests that the cytogenetic criteria used to define non-mosaic patients may be inadequate; thus, the risk of intracytoplasmic sperm injection in apparently non-mosaics may be lower than expected. SN - 0268-1161 UR - https://www.unboundmedicine.com/medline/citation/11331634/Meiotic_behaviour_of_the_sex_chromosomes_in_three_patients_with_sex_chromosome_anomalies__47XXY_mosaic_46XY/47XXY_and_47XYY__assessed_by_fluorescence_in_situ_hybridization_ L2 - https://academic.oup.com/humrep/article-lookup/doi/10.1093/humrep/16.5.887 DB - PRIME DP - Unbound Medicine ER -