1/8. Analysis of the sex chromosome constitution of sperm in men with a 47, XYY mosaic karyotype by fluorescence in situ hybridization.OBJECTIVE: To determine the incidence of sex chromosome aneuploidy in the sperm of two men with a 47,XYY/46,XY karyotype. DESIGN: Case report. SETTING: infertility clinic in a teaching hospital. PATIENT(S): One patient with near normal semen parameters whose wife had a history of miscarriages and one patient with primary infertility and severe oligoasthenozoospermia. INTERVENTION(S): cytogenetic analysis of peripheral lymphocytes and three-color X/Y/18 fluorescence in situ hybridization analysis of sperm. MAIN OUTCOME MEASURE(S): Analysis of sex chromosome disomy and diploidy rates in sperm. RESULT(S): Both patients had a 47,XYY/46,XY karyotype. The hyperdiploidy rate of patient 1 was 19% and that of patient 2 was 90%. The incidence of disomy XY was significantly elevated in both patients compared with the controls (0.23% and 1.02%, respectively, versus 0.10%). The incidence of disomy YY (0.44% versus 0.10%) was increased only in patient 2, as was the incidence of disomy 18 (0.49% versus 0.09%) and the rate of diploidy (0.83% versus 0.13%). The rate of 24,XX sperm in both patients was not different from that in the controls. CONCLUSION(S): patients with a 47,XYY mosaic karyotype may be at risk of producing offspring with a hyperdiploid sex constitution. These patients should have their sperm investigated by fluorescence in situ hybridization to determine their particular risks before they undergo intracytoplasmic sperm injection.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
2/8. Multicolor fluorescence in situ hybridization analysis of meiotic chromosome segregation in a 47,XYY male and a review of the literature.The frequencies of aneuploid and diploid sperm were determined in a 47,XYY male using multi-color fluorescence in situ hybridization (FISH) analysis, and compared with those from 10 control donors. A total of 30,078 sperm from the patient was scored, 15,044 by two-color FISH for chromosomes 13 and 21, and 15,034 by three-color FISH for the sex chromosomes using chromosome 1 as an internal autosomal control for diploidy and lack of hybridization. The frequencies of X-bearing (49.73%) and Y-bearing sperm (49.46%) in control males were not significantly different from the expected 50% (chi(2)-test for goodness of fit). The ratio of 24,X (50.60%) to 24, Y sperm (48.35%) in the patient, however, was significantly different from the controls (P = 0.0144, chi(2)-test for independence) and from the expected 1:1 ratio (P = 0.0055, chi(2)-test for goodness of fit). There was no significant increase in the frequency of diploid sperm when compared with the controls (chi(2)-test for independence). Significantly increased frequencies were found for 24,YY (0.07% vs. 0.02%, P = 0.0009) and 24,XY (0.44% vs. 0.29%, P = 0.0025), but not for 24,XX (0.05% vs. 0.05%, P > 0. 05), 24, 13 (0.07% vs. 0.07%, P > 0.05) or 24, 21 sperm (0.21% vs. 0. 18%, P > 0.05) in the 47,XYY male when compared with control donors (chi(2)-test for independence). Our results support the theory that loss of the extra y chromosome occurs during spermatogenesis in most cells. In this XYY patient there was a significant increase in the frequency of sperm with sex chromosomal abnormalities but no suggestion of an inter-chromosomal effect on autosomes. All 3-color FISH studies in the literature demonstrate a significantly increased risk of gonosomal aneuploidy in XYY males, with the risk being on the order of 1%.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
3/8. fluorescence in-situ hybridization analysis of chromosomal constitution in spermatozoa from a mosaic 47,XYY/46,XY male.Sex-chromosome mosaicism in spermatozoa from a mosaic 47,XYY[20%]/46, XY[80%] male with fertility problems was assessed using triple-probe fluorescence in-situ hybridization (FISH) studies. Chromosome-specific probes for X, Y and 18 were used, and the possible outcomes were deduced. In normal haploid spermatozoa of the patient and a normal 46,XY male control, the X:Y ratio was close to 1:1. There was a significant difference in the total incidence of karyotypically abnormal spermatozoa between the patient and the 46, XY male control (2.31% versus 1.46%, P < 0.0001). The incidence of some types of disomic spermatozoa X Y 18 (24,XY) and X 18 18 (24,X, 18), or diploid X Y 18 18 (46,XY) spermatozoa was significantly increased in the patient's semen sample. There was, however, no significant difference in the incidence of disomic Y Y 18 (24,YY) spermatozoa. Because the majority of the patient's spermatozoa was karyotypically normal, the aetiology of his fertility problems was unclear. These results add to the growing body of information regarding chromosome abnormalities in spermatozoa from men who are mosaic for sex chromosome abnormalities. In these men, FISH analysis of spermatozoa may be warranted to determine the relative percentages of abnormal cells, and to determine if in-vitro fertilization with preimplantation genetic diagnosis may increase the likelihood of a successful pregnancy.- - - - - - - - - - ranking = 0.83333333333333keywords = hybridization (Clic here for more details about this article) |
4/8. From spermatocytes to spermatozoa in an infertile XYY male.Sex chromosome distribution and aneuploidy as well as germ cell degeneration were evaluated in meiotic and post-meiotic cells from an infertile XYY male. Sex chromosome distribution was assessed by multicolour fluorescence in situ hybridization on meiotic preparations. Post-meiotic cell aneuploidy was characterized by a method combining multicolour fluorescence in situ hybridization and immunocytochemistry using the proacrosin-specific monoclonal antibody (mAb 4D4). TUNEL assay was carried out on seminiferous tubules to evaluate germ cell degeneration. At the prophase stage of the first meiotic division, 63.64% of cells at the pachytene stage carried three sex chromosomes. The ratio of X-bearing to Y-bearing spermatids and spermatozoa differed significantly from 1 : 1 with an excess of Y-bearing spermatids and spermatozoa. The frequency of hyperhaploid XY spermatids was increased in the XYY male, as well as the incidence of YY, XY and disomic 18 ejaculated spermatozoa. A preferential elimination of germ cells by apoptosis occurred in spermatocytes I. The persistence of the extra y chromosome during meiosis of an XYY male is associated with a high rate of spermatocyte I degeneration and a low rate of aneuploid spermatozoa.- - - - - - - - - - ranking = 0.33333333333333keywords = hybridization (Clic here for more details about this article) |
5/8. 46,XY/47,XYY/48,XYYY karyotype in a 3-year-old boy ascertained because of radioulnar synostosis.Chromosome analysis was performed on a 3-year-old boy because of bilateral radioulnar synostosis and demonstrated a mosaic karyotype 46,XY/47,XYY/48,XYYY. He had minor facial anomalies and mild intellectual delay. He appears to be the youngest patient reported with this rare chromosome complement. His father, mother, and brother had normal chromosomes. fluorescence in situ hybridization (FISH) was performed on the propositus and his father with the y chromosome heterochromatic probe (pHY3.4) to add to the evaluation of mosaicism.- - - - - - - - - - ranking = 0.16666666666667keywords = hybridization (Clic here for more details about this article) |
6/8. Analysis of sex chromosome distribution in the gonadal tissue of a 45,X/47,XYY mosaic by fluorescence in situ hybridization.45,X/47,XYY mosaicism is a rare condition with scarce information on the tissue-specific distribution of the different cell lines. fluorescence in situ hybridization with repetitive, chromosome-specific dna probes was applied to gain insight into the tissue-specific distribution of the two cell lines in biopsies of the streak gonad and dysgenetic testis of a 2-year-old individual exhibiting 45,X/47,XYY mosaicism. The distribution of the 45,X/47,XYY cells within different tissues was found to be nonrandom. The coelomic epithelium, the vascular endothelium, and the prepuberal germ cells exhibited predominantly a 47,xyy karyotype. In contrast, sertoli cells exhibited both karyotypes, and the remaining tissue was predominantly composed of 45,X cells. The contribution of the two cell lines to gonadal development is discussed.- - - - - - - - - - ranking = 0.83333333333333keywords = hybridization (Clic here for more details about this article) |
7/8. A fluorescent in situ hybridization analysis of the chromosome constitution of ejaculated sperm in a 47,XYY male.Two semen samples from a 47,XXY male were examined using chromosome-specific DNA probes and fluorescent in situ hybridization (FISH) to determine the distribution of sex chromosomes and an autosome (chromosome 17) in the sperm. A motile population of sperm was also prepared from one sample using the swim-up technique to compare the motile and total sperm populations. Chromosomes were localized using single FISH and a biotinylated chromosome 17 probe (TR17), or double FISH using a biotinylated X chromosome probe (TRX) and a digoxigenin-labelled y chromosome probe (HRY). Labelling efficiencies were 95-98%. Ploidy levels were estimated by measurement against a microscope eye-piece graticule. The overall ratio of X- to Y-bearing sperm was 47% to 48.4% in the neat samples, and 48.4% to 45.3% in the swim-up fraction. Neither of the ratios was significantly different from 1:1. The frequencies of monosomic and disomic (but otherwise haploid sperm) were not different from the frequencies we observed in normal donors. In contrast, the frequencies of both diploid and tetraploid cells were increased in the neat samples of the XYY male. In the swim-up fractions, however, none of these parameters differed from those of ten normal semen donors. These results support the hypothesis that the extra y chromosome in XYY men is eliminated during spermatogenesis.- - - - - - - - - - ranking = 0.83333333333333keywords = hybridization (Clic here for more details about this article) |
8/8. Increased incidence of disomic sperm nuclei in a 47,XYY male assessed by fluorescent in situ hybridization (FISH).Using triple-colour fluorescent in situ hybridization in decondensed sperm heads, we assessed the sex-chromosome distribution in spermatozoa from a 47,XYY male compared with controls. The incidence of spermatozoa with 24,XY (0.30%) and 24,YY (1.01%) disomy was significantly higher than in our control series. Diploid meiocytes present in the ejaculate were mainly 47,XYY (60.6-86.7%), and haploid meiocytes were mainly 24,XY (78.1%).These results suggest that, although the extra y chromosome is thought to be eliminated during spermatogenesis, XYY germ cells can complete meiosis and produce disomic spermatozoa.- - - - - - - - - - ranking = 0.83333333333333keywords = hybridization (Clic here for more details about this article) |