1/11. Human male infertility: chromosome anomalies, meiotic disorders, abnormal spermatozoa and recurrent abortion.Human male infertility is often related to chromosome abnormalities. In chromosomally normal infertile males, the rates of chromosome 21 and sex chromosome disomy in spermatozoa are increased. Higher incidences of trisomy 21 (seldom of paternal origin) and sex chromosome aneuploidy are also found. XXY and XYY patients produce increased numbers of XY, XX and YY spermatozoa, indicating an increased risk of production of XXY, XYY and XXX individuals. Since XXYs can reproduce using intracytoplasmic sperm injection (ICSI), this could explain the slight increase of sex chromosome anomalies in ICSI series. Carriers of structural reorganizations produce unbalanced spermatozoa, and risk having children with duplications and/or deficiencies. In some cases, this risk is considerably lower or higher than average. These patients also show increased diploidy, and a higher risk of producing diandric triploids. Meiotic disorders are frequent in infertile males, and increase with severe oligoasthenozoospemia (OA) and/or high follicle stimulating hormone (FSH) concentrations. These patients produce spermatozoa with autosomal and sex chromosome disomies, and diploid spermatozoa. Their contribution to recurrent abortion depends on the production of trisomies, monosomies and of triploids. The most frequent sperm chromosome anomaly in infertile males is diploidy, originated by either meiotic mutations or by a compromised testicular environment.- - - - - - - - - - ranking = 1keywords = abortion (Clic here for more details about this article) |
2/11. association of D/D translocations with fetal wastage and aneuploidy. A report of four families.Four families are described with a t(13q14q) segregating. Two of them were identified through index cases with Down's syndrome; their karotypes revealed the unusual 46,XY, -13, -14, t(13q14q), 21. The other two families were identified through a chromosomal study of parents with repeated spontaneous abortions. Analysis of data on 3 of these 4 families and on 7 other from the published reports showed no evidence of increased fetal wastage among 13/14 carriers. However, the risk of producing offspring with various types of aneuploidy may be greater among carriers than among persons with a normal chromosome pattern. Qualitative and quantitative differences in D/D translocations may account for the observed variation in clinical findings. These differences add to the problem of determining genetic risks from an analysis of grouped data.- - - - - - - - - - ranking = 0.2keywords = abortion (Clic here for more details about this article) |
3/11. reproductive history of a healthy woman with mosaic duplication of chromosome 4p.OBJECTIVES: Mosaic autosomal duplications are rare and often result in mental retardation and congenital anomalies. phenotype is not predictable depending on the chromosomal imbalance involved and the percentage and tissues distribution of unbalanced cells. We report on a young woman carrying a mosaic duplication of chromosome 4p, evaluated because of three abortions due to IUGR and fetal malformation. methods: Mosaic dup(4p) was detected by standard and molecular cytogenetics. RESULTS: Unbalanced cells accounted for about 20 to 30% of nuclei in four examined tissues and did not cause any obvious phenotypic effect. CONCLUSION: It is likely that mosaic duplications are underascertained because they are not associated with obvious clinical effects in some individuals. prenatal diagnosis is the method of choice to predict the karyotype in the offspring of subjects carrying mosaic chromosome imbalances.- - - - - - - - - - ranking = 0.2keywords = abortion (Clic here for more details about this article) |
4/11. aneuploidy screening in a coelomic sample from a missed abortion using sequential fluorescence in situ hybridization.OBJECTIVE: To investigate the incidence of aneuploidy by using sequential interphase fluorescence in situ hybridization (FISH) in an uncultured coelomic fluid sample from a missed abortion. DESIGN: Case report. SETTING: Fetal medicine and gynecology departments of two university hospitals. PATIENT(S): A 33-year-old woman with a missed abortion. INTERVENTION(S): Molecular cytogenetic analysis was performed on coelomic fluid cells and placental tissue by applying a multicolor probe for chromosomes 13, 16, 18, 21, and 22 in a first layer of hybridization, followed by a triple-color probe for chromosomes X, Y, and 18. MAIN OUTCOME MEASURE(S): Analysis of limited number of coelomic cells by using sequential FISH. RESULT(S): The results showed trisomy 13 in 92% of nuclei. Diploid cells were observed at low levels (4%), but these were caused by maternal cell contamination, as revealed after reprobing with the X,Y,18 triple-color probe set. The result also was confirmed in the placental tissue. CONCLUSION(S): We conclude that sequential FISH analysis can overcome problems associated with limited cell numbers, accurately detect aneuploidy, and distinguish between maternal cell contamination and genuine mosaicism in coelomic cells and placental tissue from missed abortions. It also has the potential to be applied for rapid aneuploidy screening in clinical cases after coelocentesis and to be used for follow-up analysis of pregnancies established after preimplantation genetic screening.- - - - - - - - - - ranking = 1.4keywords = abortion (Clic here for more details about this article) |
5/11. Mitotic disturbances associated with inversion 9qh. A case report.A 25-year-old female with history of spontaneous abortion and subsequent birth of down syndrome child was referred for chromosome analysis. Her karyotype revealed 46, XX with pericentric inversion of 9 qh, while her husband was normal with 46, XY chromosomes. metaphase analysis of the female showed 20.5% cells with premature centromere division, 4% with endoreduplication, 2% with polyploidy and 9.33% aneuploidy. These frequencies were considerably higher as compared to a normal control. These observations suggest that inv (9qh) might have some interchromosomal effect leading to higher incidence of mitotic disturbances, finally resulting in aneuploidy. This predisposition is evident by spontaneous abortion and later birth of a down syndrome child.- - - - - - - - - - ranking = 0.4keywords = abortion (Clic here for more details about this article) |
6/11. cytogenetics of recurrent abortions.chromosome banding studies were carried out on both partners of 37 couples who had had two or more spontaneous abortions. Three patients had chromosome disorders; one was a triple-X female and the other two (one male and one female) were t(13;14) translocation carriers. review of the literature indicates that the over-all frequency of major chromosome disorders in couples with repeated abortions is 2.6%. About three-fourths of these disorders are reciprocal and Robersonian translocations.- - - - - - - - - - ranking = 1.2keywords = abortion (Clic here for more details about this article) |
7/11. Balanced translocation karyotypes in patients with repetitive abortion. Case study and literature review.Cytogenetic studies were conducted upon 100 consecutive couples with abortions. Eight balanced carrier translocation karyotypes were discovered (8%): three cases of Robertsonian translocations and five reciprocal translocations. Two structural variant karyotypes and a poly-X mosaic were also found. A review of the literature on repetitive abortion revealed 82 balanced translocations in 1,331 couples, a rate of 6.2%. Cytogenetic studied should be routine for patients with repetitive abortion. In the pooled series, 3.7% of couples with translocation had wastage, including some with normal offspring; 9.2% had malformed offspring; 62% of the carrier couples lacked the malformation history. Seventy-four percent of the translocations were reciprocal; risk rates for imbalanced progeny were undefined for 90% of the carrier couples. Only 11 imbalanced conceptuses were demonstrated cytogenetically in 262 pregnancies of the carrier group.- - - - - - - - - - ranking = 1.4keywords = abortion (Clic here for more details about this article) |
8/11. triploidy in human abortions.Seven triploid embryos and fetuses, six spontaneously aborted and one resulting from pregnancy interruption are described. A wide range of malformations, from amorphous, nodular embryos, to apparently normal phenotypes were observed. The degree of hydatid degeneration in the placentae ranged from minimal to severe. In several cases large, atypical cells were present in the villous stroma. There was no apparent correlation between the degree of placental lesion and fetal malformations. It is suggested that termination of triploid pregnancies is determined more by the degree of placental damage rather than the severity and type of fetal anomalies.- - - - - - - - - - ranking = 0.8keywords = abortion (Clic here for more details about this article) |
9/11. "De novo" trisomy 1q32 leads to 1qter and monosomy 3p25 leads to 3pter.Minor abnormalities are described in an 11-month-old female in which a "de novo" trisomy 1q32 leads to lqter and a monosomy 3p25 leads to ter has been produced. The amount of the exceeding material in this case is less than that found in previous reports of partial trisomy 1q and in cases of parental 1q balanced translocations which has originated recurrent abortions.- - - - - - - - - - ranking = 0.2keywords = abortion (Clic here for more details about this article) |
10/11. Characterization of fetal haematopoietic progenitors circulating in maternal blood of seven aneuploid pregnancies.A retrospective study was carried out in order to investigate the phenotype of fetal haematopoietic progenitors circulating in the maternal blood of seven aneuploid pregnancies. Five of the blood samples were taken during pregnancies affected by various fetal aneuploidies, while the other two were collected after therapeutic abortion due to prenatal cytogenetic diagnosis of trisomies 21 and 18. Haematopoietic progenitor cells, isolated by labelling the erythropoietin receptors with the biotinylated ligand before magnetic sorting and/or fibronectin cell adhesion assay, were cultured in a suitable semisolid medium. Single- or dual-colour fluorescence in situ hybridization (FISH) was utilized to identify and enumerate fetal cells amplified in culture. Fetal trisomies were confirmed in the FISH analysis with chromosome-specific probes in all the cases analysed. The fetal purity rate ranged from 16 to 26 per cent. Haematopoietic progenitors of fetal origin were found to include CFU-E, CFU-GEMM, and possibly also M-BFU-E. Interestingly, a more immature progenitor with high self-renewal capacity (CFU-blast cell) isolated by fibronectin sorting was shown to have a relatively high frequency in one case of down syndrome. In general, the results of this study demonstrate the feasibility of diagnosing the major fetal chromosomopathies by culturing fetal cells taken from maternal blood. Furthermore, our initial data on the sequential sorting for fibronectin and erythropoietin receptors lead us to believe that this approach may broaden the range of fetal haematopoietic progenitors retrievable from the maternal circulation.- - - - - - - - - - ranking = 0.2keywords = abortion (Clic here for more details about this article) |
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