Tetraploidy of human chromosome(92, XXYY) has been described very rarely. Liveborn infant with tetraploidy was reported in only 17 cases(complete 7 cases, mosaicism 10 cases) in the world, and no cases have been reported in Korea. The diploid-tetraploid mosaicism could arise during the early mitosis of the zygote. In one blastomeric cell, the chromosomes replicate but the cytoplasrn does not divide. We report a case of live infant with mosaic tetraploidy detected in lymphocyte(30%) and amniotic cell culture(25%), who presented with multiple congenital anomalies. A brief review of the literature is included.
Humans ; Infant ; Korea ; Mitosis ; Mosaicism ; Tetraploidy ; Zygote

In 79 renal cell carcinoma analyzed by flow cytometry, 30 tumors (38%) were aneuploid stem line. 18 (60%) of these were tetraploid aneuploid while 12 (40% ) were nontetraploid aneuploid. Two or more specimens were analyzed from a single primary tumor in 34 patients and heterogeneily of ploidy status was observed in 9 (27%). A significant correlation was noted between the presence of aneuploid stem lines and high stage disease (P less than 0.02) but there was no significant correlation between ploidy status and tumor grade. There was significant survival advantage of patients with diploid tumors compared to those with aneuploid tumors in total population (P less than 0.05 ). But in multivariated analysis, only two factors. capsule invasion and lymph node involvement were independent predictors of survival and no clear survival advantage was demonstrated for patients with diploid tumors when controlled for tumor and node stage. In conclusion, considering the heterogeneity of ploidy status and the lack of independent prognostic value. we do not support widespread clinical application of flow cytometry in the management of individual patients with renal cell carcinoma.
Aneuploidy ; Carcinoma, Renal Cell* ; Diploidy ; DNA* ; Flow Cytometry ; Humans ; Lymph Nodes ; Ploidies ; Population Characteristics ; Prognosis ; Tetraploidy

3 cases of transitional cell carcinoma were subjected to detailed cytogenetic analysis. All three were superficial (T1G I , T1G III, T1G I). Case 1 and case 3 (all T1G I) had diploidy modal chromosomal number but case 2 (TtGIII) had partly triploidy and tetraploidy chromosome. Case 3 showed marker chromosomes and in case 2 and 3, breakage of long arm of the second chromosome was seen.
Arm ; Carcinoma, Transitional Cell* ; Cytogenetic Analysis ; Diploidy ; Tetraploidy ; Triploidy ; Urinary Bladder*

Both cytogenetic analysis and flow cytometric analysis (FCM) are well known prognostic indicators in the transitional cell carcinoma (TCC) of the urinary bladder. To correlate results of the two methods, FCM cell DNA studies and cytogenetic analysis were performed concurrently on clinical samples from the twelve patients with TCC of urinary bladder and the cells taken from these comparisons were possible showed concordance between FCM and cytogenetics with respect to the presence or absence of aneuploidy. Among the four cases with discrepancies, three (27.2 % of all cases) showed peridiploid pattern by cytogenetic analysis and had tetraploid aneuploid DNA histograms. In one case with hyperdiploid pattern by cytogenetics (9.1 %) showed diploid on the nine patients with peridiploid pattern one has recurred. Also, two of the three patients with aneuploid pattern by cytogenetic study were recurred. In flow cytometric analysis, all of the nine patients with diploid pattern were not recurred. Whereas, of the nine cases of aneuploid patterns five were recurred. Although the number of samples were too small to compare the correlations statistically, our results indicate that these two methods are not related to each other in predicting the prognosis in transitional cell carcinoma of the urinary bladder.
Aneuploidy ; Carcinoma, Transitional Cell* ; Cytogenetic Analysis* ; Cytogenetics* ; Diploidy ; DNA ; Flow Cytometry ; Humans ; Prognosis ; Tetraploidy ; Urinary Bladder*

In order to investigate the genetic basis of morphological variation of tetraploid plantlets of Atractylodes macrocephala, diploid plantlets were taken as experimental material, sterile filtration colchicine was used to soak 0.5-1.0 cm long buds. The difference between morphology and stomatal of diploid and tetraploid of A. macrocephala was compared, and genome polymorphism was explored by AFLP. The results showed that the buds dipped in 0.1% colchicine solution for 36 h was optimal conditions to induce tetraploid of A. macrocephala with induction rate of 32.0%. Morphological indexes such as leaf area index, leaf length and width, the density of stomas and the number of chloroplast of tetraploid were distinctly different from diploid. Four hundred and fifty-one bands ranging with 80-500 bp were amplified with 24 pairs of primers, the rate of polymorphism was 32.59%. These amplification sites of diploid were different from tetraploid of A. macrocephala, and the differences in morphology of them were reflected in the DNA polymorphism.
Amplified Fragment Length Polymorphism Analysis ; methods ; Atractylodes ; genetics ; Sequence Analysis, DNA ; Tetraploidy

Protein kinase C (PKC) is a critical molecule in cellular signal transduction in mammals. It is involved in many biological processes in embryonic development, including nuclear remodeling, cell cycle adjustment and cellular polarity regulation. The present study aimed to observe the location of PKCα, an important isozyme of PKC, in fertilized, parthenogenetic and tetraploid preimplantation embryos, and compare the expression of PKCα during embryonic compaction in Kunming mice. The location of PKCα was detected by immunochemistry and laser confocal microscopy. Western blot was performed to quantify PKCα expression during embryonic compaction in the three kinds of embryos. In the experiment, fertilized embryos were flushed from oviduct or uterus at 45, 52, 69, 76 and 93 h after injection of human chorionic gonadotrophin (hCG); parthenogenetic embryos were collected by SrCl2 activation of oocytes for 6 h; and tetraploid embryos were produced by electrofusion of 2-cell embryos. Embryos were fixed at different developmental stages for immunofluorescent staining. 8-cell/4-cell embryos and morula were lysed for Western blot. The results showed that PKCα had similar location pattern in different embryos. It was distributed mainly in the nuclear aggregating around chromatin at different developmental stages. However, PKCα expressed strongly in the interphase than in mitotic blastomere. Before embryonic compaction, PKCα was localized at the blastomere boundary. At late blastocyst stage of fertilized embryos, PKCα was localized only in the polar trophoblast, but not in other trophoblast. At late stage of pathenogenetic blastocyst, there was no clear PKCα signal in the polar trophoblast. Tetraploid embryos had larger blastomere than other embryos and compacted after 4-cell stage, but not after 8-cell stage. Meanwhile, there was PKCα signal at the blastomere boundary at 4-cell stage. Our results showed that the expression of PKCα lasted through all the preimplantation stage. Although there were different expression levels among different stages, the expression increased around embryonic compaction. Quantification of expression of PKCα by Western blot demonstrated that the expression increased after compaction, indicating that the compaction was possibly dependent on the relocation of PKCα. Moreover, it was shown that the second relocation of PKCα occurred during the blastocyst formation. PKCα had different expression patterns in the three kinds of preimplantation embryos. However, the effects of PKCα on embryonic development started in early stage. There must be a necessary connection between PKCα relocation and cell adhesion starting at embryonic compaction.
Animals ; Embryonic Development ; Female ; Mice ; Parthenogenesis ; Pregnancy ; Protein Kinase C-alpha ; metabolism ; Tetraploidy ; Trophoblasts ; enzymology

OBJECTIVETo establish and optimize the rapid propagation system of Polygonum multiflorum, as well as explore method for induction and identification of autotetraploid.

METHODPropagation medium was optimized by orthogonal test. The buds were immersed in colchicine solution with different concentrations for different time to select induction conditions for autotetraploid of P. multiflorum.

RESULTThe most appropriate propagation medium was MS medium supplemented with 1.0 mg x L(-1) 6-BA, 0.3 mg x L(-1) NAA, and 0.4 mg x L(-1) PP333. That the buds were soaked in 0.2% colchicine solution for 30 h, or soaked in 0.3% colchicine solution for 18 h, was optimal condition to induce autopolyploid of P. multiflorum with induction rate as high as 16.7%.

CONCLUSIONRapid propagation of P. multiflorum could be achieved by tissue culture. Furthermore, colchicine was an effective inducer of polyploidy, and 25 tetraploid lines were obtained through chromosome identification. The experiment laid a foundation for the wild resource conservation, superior varieties breeding of P. multiflorum.

Chromosomes, Plant ; genetics ; Culture Media ; metabolism ; Polygonum ; genetics ; growth & development ; metabolism ; Tetraploidy ; Tissue Culture Techniques ; methods

OBJECTIVE: To explore the genetic and clinical characteristics of near-tetraploidy/tetraploidy karyotype (NT/T) in patients with myelodysplastic syndrome (MDS). METHODS: Cytogenetic findings of 1576 inpatients with primary MDS were retrospective analyzed, among which 9 were diagnosed with NT/T. Clinical data including gender, age, morphology, genetic feature and prognosis were analyzed. RESULTS: The prevalence of MDS patients with NT/T (NT/T-MDS) among all cases was 0.57%. Karyotyping analysis suggested that eight MDS patients had sole NT/T, while the remainder one had a complex karyotype. In addition to the typical morphology of MDS, NT/T-MDS had unique morphology including huge blast, double-nuclear cell and irregular nuclear membrane. One NT/T-MDS patient gave up therapy, and the remaining eight underwent the first course of treatment, albeit with poor prognosis. Only one patient had complete remission, one had partial remission, three had no remission; and three had converted to acute myeloid leukemia. CONCLUSION NT/T-MDS is rare and has unique morphology. Generally, NT/T-MDS patients have poor prognosis. However, NT/T cannot be simply classified as high-risk group, but with consideration whether they have affected particular chromosomal structures as well as other clinical data.
Humans ; Karyotype ; Leukemia, Myeloid, Acute/complications* ; Myelodysplastic Syndromes/pathology* ; Prognosis ; Retrospective Studies ; Tetraploidy

Self-organized blastoids from extended pluripotent stem (EPS) cells possess enormous potential for investigating postimplantation embryo development and related diseases. However, the limited ability of postimplantation development of EPS-blastoids hinders its further application. In this study, single-cell transcriptomic analysis indicated that the "trophectoderm (TE)-like structure" of EPS-blastoids was primarily composed of primitive endoderm (PrE)-related cells instead of TE-related cells. We further identified PrE-like cells in EPS cell culture that contribute to the blastoid formation with TE-like structure. Inhibition of PrE cell differentiation by inhibiting MEK signaling or knockout of Gata6 in EPS cells markedly suppressed EPS-blastoid formation. Furthermore, we demonstrated that blastocyst-like structures reconstituted by combining the EPS-derived bilineage embryo-like structure (BLES) with either tetraploid embryos or tetraploid TE cells could implant normally and develop into live fetuses. In summary, our study reveals that TE improvement is critical for constructing a functional embryo using stem cells in vitro.
Pregnancy ; Female ; Animals ; Mice ; Tetraploidy ; Blastocyst ; Embryo, Mammalian ; Cell Differentiation ; Embryonic Development

To evaluate the value of flow cytometry in cryptorchidism, the results were compared with histologic findings. The study group consisted of 22 unilateral cryptorchidism(17 prepubescents and 5 postpubescents) and 18 testes 1mm patients with hydrocele, infertility and prostatic cancer. DNA histograms of all prepubertal testes demonstrated normal pattern of 85% of cells in the diploid peek. 12% of cells in the tetraploid peek and no haploid peak in spite of three distinct pattern of the histolegical finding with respect to development of germ cells and shape of seminiferous tubule and interstitium. However, in postupubertal patients with cryptorchidsm and other diseases, DNA histograme revealed characteristic ploidy patterns of relative proportions of haploid, diploid and tetaploid sells corresponding to the histological appearances of normal testicular morphology, moderately abnormal morphology and Sertoli cell only. Flow cytometricanalysis of testis is a rapid, objective and quantitative method that may ultimately replace standard wedge biopsy due to its high degree of histological correlation in postpubertal crytorchidism.
Biopsy ; Cryptorchidism* ; Diploidy ; DNA ; Flow Cytometry* ; Germ Cells ; Haploidy ; Humans ; Infertility ; Male ; Ploidies ; Prostatic Neoplasms ; Seminiferous Tubules ; Testis ; Tetraploidy