21/36. 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 = 1keywords = preimplantation (Clic here for more details about this article) |
22/36. 'Round head' sperm defect. Ultrastructural and meiotic segregation study.The sperm 'round head' defect, also known as globozoospermia, is an uncommon alteration of sperm morphology generally characterised by 100% round headed sperm totally lacking an acrosome. This alteration is a genetic sperm defect as demonstrated by analysing the incidence of these alterations in a population of infertile men showing a history of consanguinity and cases belonging to the same family. Ultrastructural characteristics and meiotic segregation in spermatozoa from two patients affected by 'round head' sperm defect were investigated. The sperm quality was examined by light and transmission electron microscopy (TEM) and fluorescence in situ hybridization (FISH) analysis was performed in order to investigate the meiotic behavior of chromosomes namely gonosomes and chromosome 18. TEM analysis, mathematically elaborated, clearly diagnosed the 'round head' genetic sperm defect and highlighted at the same time the presence of other phenotypic alterations belonging to pathologies such as immaturity, apoptosis and necrosis. It is possible to hypothesize that round headed sperm could be a 'weak phenotype' allowing the sperm pathologies to overlap with a sperm defect of genetic origin, further compromising fertilizing potential. FISH analysis revealed a positive correlation between globozoospermia and higher disomies of sex chromosomes and diploidies suggesting a higher risk of creating an aneuploid embryo after intracytoplasmic sperm injection.- - - - - - - - - - ranking = 0.014062951437785keywords = embryo (Clic here for more details about this article) |
23/36. First successful pregnancy outcome after preimplantation genetic diagnosis for aneuploidy screening in embryos generated from natural-cycle in vitro fertilization combined with an in vitro maturation procedure.OBJECTIVE: To report on the first successful pregnancy performing preimplantation genetic diagnosis (PGD) on embryos obtained after combining natural IVF with in vitro maturation procedure. DESIGN: Case report. SETTING: University hospital. PATIENT(S): A 35-year-old patient with polycystic ovaries who was attending the fertility clinic. INTERVENTION(S): in vitro maturation of immature oocytes and preimplantation genetic diagnosis. MAIN OUTCOME MEASURE(S): Preimplantation genetic diagnosis of aneuploidy screening in embryos produced from in vitro maturation procedure. RESULT(S): Thirteen immature and two mature oocytes were collected, and eight mature oocytes were normally fertilized, of which six embryos were biopsied for chromosome analysis. Two chromosomally normal embryos were transferred on day 5, resulting in the birth of a healthy child. CONCLUSION(S): This case report demonstrates that an acceptable number of embryos can be generated after in vitro maturation procedure to perform PGD for aneuploidy screening and that this approach can be extended to patients with polycystic ovaries or polycystic ovary syndrome who are undergoing PGD for other genetic diseases.- - - - - - - - - - ranking = 6.1265665629401keywords = preimplantation, embryo (Clic here for more details about this article) |
24/36. Intrauterine growth retardation associated with chromosomal aneuploidy confined to the placenta. Three observations: triple trisomy 6,21,22; trisomy 16; and trisomy 18.cytogenetic analysis in three pregnancies revealed chromosomal mosaicism confined to chorionic villi. They were ascertained in the third trimester by intrauterine growth retardation (IUGR) in otherwise normal fetuses. In case of triple trisomy 6,21,22 and trisomy 16, it was obvious that these findings were most likely restricted to the placenta. These trisomies act as early lethal factors when they occur in the embryo itself. With trisomy 18, however, the interpretation of the cytogenetic finding remains ambiguous. The question arises as to whether an abnormal karyotype may be the cause of placenta insufficiency or is just coincidentally associated.- - - - - - - - - - ranking = 0.014062951437785keywords = embryo (Clic here for more details about this article) |
25/36. A human gallbladder adenocarcinoma cell line.A cell strain (FU-GBC-1) was established from cancerous ascites of a 68-year-old male patient with well-differentiated adenocarcinoma of the gallbladder. By light and electron microscopy, the cultured cells showed the morphologic features of adenocarcinoma characterized by gland-like structures, intracellular microcystic spaces, and mucous production. Immunoperoxidase stains showed that FU-GBC-1 cells expressed several epithelial tumor antigens including CA 19-9, carcinoembryonic antigen (CEA), and epithelial membrane antigen (EMA). The cell strain has been in continuous culture up to passage 44 for 1 1/2 years, with the population doubling time of 120 hours. The cytogenetic analysis by a G-band technique showed a constant loss of chromosome Y in FU-GBC-1 cells. The modal chromosome number at passage 12 was 82 with a range of 77 to 85. flow cytometry with an ethidium bromide technique additionally confirmed aneuploid dna content (4C) in the cultured cells at passage 12 and 35. Inoculation of FU-GBC-1 cells into the dermis of BALB/c nude mice produced transplantable adenocarcinoma identical to the original tumor. Because no continuous cell lines of the well-differentiated type of gallbladder adenocarcinoma have been reported in the literature currently, the newly established cell strain we report may yield a useful system for studying the morphologic and biologic characteristics of gallbladder adenocarcinoma.- - - - - - - - - - ranking = 0.014062951437785keywords = embryo (Clic here for more details about this article) |
26/36. Confirmation of prenatal diagnosis of sex chromosome mosaicism.prenatal diagnosis of mosaicism causes problems in interpretation and in genetic counselling. Part of the difficulty with any prenatal diagnosis of mosaicism is interpretation of results without knowing the exact origin, embryonic or extraembryonic, of the abnormal cell line. To confuse the issue in cases of prenatal diagnosis of 45,X/46,XY mosaicism is the recent demonstration that a diagnosis of 45,X/46,XY made prenatally is not necessarily associated with the same phenotype as when diagnosed postnatally. We present two cases of prenatal diagnosis of sex chromosome mosaicism (45,X/46,XY and 45,X/47,XYY). Posttermination examination of the phenotypically normal male fetuses and their placentas established that the placenta was the most likely source of the 45,X cell line. An approach to confirming the prenatal diagnosis of sex chromosome mosaicism and establishing its origin utilizing detailed cytogenetic examination of both fetus and placenta is suggested.- - - - - - - - - - ranking = 0.028125902875569keywords = embryo (Clic here for more details about this article) |
27/36. Embryonal rhabdomyosarcoma in ascitic fluid. Immunocytochemical and dna flow cytometric study.We report the case of an 18-year-old woman who had a small-cell malignant neoplasm of the left paranasal sinuses and who, 18 months later, developed malignant ascites. Immunoperoxidase stains of the ascitic fluid cells and, subsequently, the original tumor, identified it as embryonal rhabdomyosarcoma. Flow cytometric dna analysis of the ascitic fluid demonstrated an aneuploid cell population that was also present in the paraffin-embedded tissue on which the original diagnosis had been made.- - - - - - - - - - ranking = 0.014062951437785keywords = embryo (Clic here for more details about this article) |
28/36. A cytogenetic study of embryonal rhabdomyosarcoma.In the cytogenetic analysis of an embryonal rhabdomyosarcoma after short-term culture, individual cells were found to contain multiple copies of chromosomes #2, #6, #8, #12, #13, #18, #20 and #21, and del(1)(:p21 qter). The tumor was hypotriploid (mode, 56 chromosomes). The relationship between these findings and published reports of karyotypes from rhabdomyosarcoma is discussed.- - - - - - - - - - ranking = 0.070314757188923keywords = embryo (Clic here for more details about this article) |
29/36. Cytogenetic studies of a male with sporadic intestinal lymphangiectasia: 45,X/46,XY mosaicism with pseudo- and hyperdiploid subpopulations in cultured tissues.45,X/46,XY mosaicism was found in peripheral blood, bone marrow, and tissue cultures of an adult male with intestinal lymphangiectasia (IL). Turner phenotype was not present; his meiotic metaphase analysis was normak, and his dermatoglyphics resembled those of his family. Ten separate tissue culture lines from three biopsies of skin and thyroid gland contained 45,X cells (14.8 to 78.3%). Autosomal aneuploidy, resulting in pseudo- or hyperdiploidy, was also present in 4.3 to 41.6% of the cells. A hyperdiploid clone with a 47,X, 10, 18 karyotype was found in 22.6% of cells in one line. A second hyperdiploid clone with a 48,X, 2, 18, 18 karyotype occurred in 7.6% of cells from another line containing a total of 41.6% pseudo- and hyperdiploid cells. Such clonal abnormalities were not typical of tissue cultures from other patients done in our laboratory. growth of our patient's tissue cultures was subnormal, and none proliferated beyond the fourth subculture. The significance of this observation remains to be determined. Our results do not allow us to conclude whether our patient's mosaicism of somatic tissues arose during embryogenesis, or whether it originated post-natally. The secondary immunodeficiency which occurs in IL may explain persistence of cells with unusual combinations of autosomal aneuploidy in our patient's tissues.- - - - - - - - - - ranking = 0.014062951437785keywords = embryo (Clic here for more details about this article) |
30/36. Human triploid embryo: cytogenetic and anatomopathologic study.A cytogenetic and anatomopathologic study of an embryo of 24 mm crown-rump length showing pure triploidy (69,XXY) is reported. Anomalies such as unilateral genitourinary agenesia, aortic alterations, defects in cerebral development, and anomalies of the chorionic villi were detected.- - - - - - - - - - ranking = 0.070314757188923keywords = embryo (Clic here for more details about this article) |
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