The bat (Chiroptera) is the only mammal that is able to fly as birds do and forms a peculiar taxonomic group in that the diploid number of chromosomes seldom are of the same number in the same genus and the different species in contrast to the other eutherian mammals. At the present time, many karyological problems remain unsolved in Korean bats. It is easy enough to imagine that many interesting things have happened in the chromosomes of the Korean bats as well. The present study was designed in order to get karyotypic data on living species of Korean bats (Vespertilio superans THOMAS and Miniopterus schreibersii fuliginosus (HODGSON). The diploid number of chromosomes of the Vespertilio superans was 38. The autosomes consisted of 6 pairs of the large metacentric, a pair of the small submetacentric and 11 pairs of tile small acrocentric chromosomes. The X chromosome was medium sized and metacentric in type and the Y was a small acrocentric type. The fundamental number was 50. The diploid number of chrmosomes of the Miniopterus schreibersii fuliginosus was 46. The autosomes consisted of 8 pairs of the metacentric type including a pair of minute metacentric chromosomes. and 18 pairs of the small acrocentric type chromosomes. The X chromosome was medium-sized and submetacentric, and the Y was a small acrocentric chromosome. The fundamental number was 52.
Animal ; Chiroptera/anatomy & histology* ; Chromosomes/ultrastructure* ; Female ; Karyotyping ; Male ; Sex Chromosomes/ultrastructure

Humans ; Male ; Metaphase/physiology* ; Sex Chromosomes/ultrastructure* ; Spermatocytes/ultrastructure* ; Spermatogenesis ; Testis/ultrastructure*

OBJECTIVETo study the technique of dual-color fluorescence in situ hybridization(D-FISH) and its application value in sperm chromosomes of Robertsonian translocation carriers.

METHODSThe technique of dual-color fluorescence in situ hybridization was used. Biotin labelled 13q14.3 specific probe and Digoxigenin labeled 14q11.1 specific probe were used for in situ hybridization of sperm specimens in 2 Robertsonian translocation carriers. Hybridization signals for chromosomes 13 and 14 in the sperm interphase nucleus were counted.

RESULTSUnder the microscope, Biotin labeled 13q 14.3 specific probe showed 1 green hybridization signal and Digoxigenin labeled 14q 11.1 specific probe showed 1 red hybridization signal. Interphase nucleus counter-stained with DAPI showed blue. From the total of 3,000 sperm interphase nuclei, the positive rate for 1 green hybridization signal and 1 red hybridization signal was 13q/14q(39.33%), for 1 green and 2 red was 13q/14q, 14q(11.57%), for 1 green was 13q/-(9.27%), for 2 green and 1 red was 13q,13q/14q(12.87%), for 1 red was -/14q(9.87%) and for 2 green and 2 red was 13q,13q/14q, 14q(12.26%).

CONCLUSIONSD-FISH of the human sperm interphase nucleus can be applied to the determination of sperm chromosomes of Robertsonian translocation carriers and the analysis of the laws of chromosomal segregation in the meiosis. The technique can be widely used in such aspects of human reproduction as insemination under the microscope and preimplantation embryos genetic diagnosis.

Adult ; Chromosomes, Human, Pair 13 ; Chromosomes, Human, Pair 14 ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Spermatozoa ; ultrastructure ; Translocation, Genetic

Many factors can result in male infertility, and a number of studies have indicated that reproductive difficulties are associated intimately with cytogenetic abnormalities. This article reviews studies on sperm chromosomes in infertile men and discusses the relationship between sperm chromosome abnormality and male infertility.
Chromosome Aberrations ; Chromosomes, Human ; Humans ; Infertility, Male ; genetics ; Karyotyping ; Klinefelter Syndrome ; genetics ; Male ; Spermatozoa ; ultrastructure

OBJECTIVETo ascertain histology changes of hereditary gingival fibromatosis (HGF) and the location of HGF gene.

METHODSA pedigree analyses of HGF; and the ultrastructure of gingival overgrowth tissue was observed with electron microscopy. The overgrowth of the HGF gene was defined with microsatellite markers.

RESULTSThe connective tissue of HGF consisted of coarse collagen bundles and several kinds of cells arranged abnormally, such as: epithelial cells, smooth muscle cells and so on; the HGF locus had been mapped to chromosome 5q13-q22.

CONCLUSIONSThe gingival pathologic changes resemble "hamartoma"; the findings has implications for identification of the underlying genetic basis of HGF.

Child ; Chromosome Mapping ; Chromosomes, Human, Pair 5 ; genetics ; Family Health ; Female ; Fibromatosis, Gingival ; genetics ; pathology ; ultrastructure ; Genetic Predisposition to Disease ; genetics ; Gingiva ; metabolism ; pathology ; ultrastructure ; Humans ; Male ; Microsatellite Repeats ; Microscopy, Electron ; Pedigree

OBJECTIVECompare two methods of preparing human unfertilized oocytes interphase nucleus and analyze the relationship between the different in vitro fertilization(IVF) indications, ovarian stimulation protocols, women's age and frequency of chromosome 17 aneuploidy.

METHODSTarkowski's air-drying method(3:1 methanol:acetic acid) and Coonen's 0.1% Tween 20/0.01 mol/L HCl method were used to fix human unfertilized oocytes interphase nucleus, and telomeric probe of 17qter was used by standard fluorescence in situ hybridization(FISH) procedures to confirm chromosome 17qter aneuploidy.

RESULTSOf 36 human unfertilized oocytes, 24 were haploid (66.7%), 7 were disomic (19.44%), 5 were trisomic (13.89%). The overall frequency of aneuploidy was 33.3%. There were no differences between the protocols characterized by different maternal age, IVF indication, ovarian stimulation.

CONCLUSIONTarkowski's air dry method is as good as the method of Coonen's, but the latter method can avoid the smell pollution of the methanol and acetic acid, and it is easy to operate. The chromosome 17 aneuploidy is one of the factors to cause in vitro fertilization failure of human oocytes.

Adult ; Aneuploidy ; Cell Nucleus ; genetics ; ultrastructure ; Chromosomes, Human, Pair 17 ; genetics ; ultrastructure ; DNA Probes ; Diploidy ; Embryo Transfer ; Female ; Fertilization in Vitro ; methods ; Haploidy ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Interphase ; genetics ; Karyotyping ; Microscopy, Fluorescence ; methods ; Ovulation Induction ; methods ; Ovum ; physiology ; Trisomy

OBJECTIVETo study the clinicopathological features, differential diagnosis and prognosis of clear cell papillary renal cell carcinoma (CCPRCC).

METHODSThe histological, immunohistochemical, and molecular features were studied in 11 cases and follow-up data were also analyzed.

RESULTSThere were a total of 3 females and 8 males. The age of patients were ranged from 33 to 72 years(mean age 52.5 years). The diameters of tumors varied from 1cm to 4 cm. Histologically, papillary and cystic architecture were present at least focally in all tumors. The papillae were covered by small to medium-sized cuboidal cells with abundant clear cytoplasm and often showed extensive secondary branching, which were often folded and densely packed, resulting in a solid appearance. The nuclei were round and uniform in shape; nucleoli were not prominent (Fuhrman grade 1 or 2). Neither mitotic figures nor necrosis was present. All 11 cases exhibited moderate to strong positivity for CK7, CA9, vimentin, and HIF-1α, coupled with negative reactions for CD10, P504S, and TFE3. Ksp-cadherin was positively expressed in 8 cases.VHL gene mutations were not found in all 11 cases. Losses of chromosomes 3 (monoploid chromosome 3) was detected in 3 cases.

CONCLUSIONSCCPRCC is uncommon and seemed to be an indolent tumor. The differential diagnosis should be included tumors, which harbor clear cell and papillary structure including clear cell renal cell carcinoma, papillary renal cell carcinoma, Xp11 translocation renal cell carcinoma, and CCPRCC. Immunohistochemical and molecular analysis may be help for its diagnosis.

Adult ; Aged ; Carcinoma, Renal Cell ; chemistry ; genetics ; pathology ; ultrastructure ; Chromosomes, Human, Pair 3 ; Female ; Humans ; Hypoxia-Inducible Factor 1, alpha Subunit ; analysis ; Kidney Neoplasms ; chemistry ; genetics ; pathology ; ultrastructure ; Male ; Middle Aged ; Mutation ; Prognosis ; Racemases and Epimerases ; analysis ; Translocation, Genetic ; Tumor Burden

We analysed ejaculated spermatozoa from five infertile men with different balanced reciprocal translocations to contribute to the study of meiotic segregation of chromosomes 18, X and Y and also to evaluate sperm morphology by transmission electron microscopy (TEM) analysis. Conventional lymphocyte karyotype analyses highlighted different reciprocal balanced translocations: t(12;13), t(4;9), t(X;8), t(8;10) and t(3;16). Semen analysis was performed by light and TEM. Fluorescence in situ hybridization was performed directly on sperm nuclei using centromeric probes for chromosomes 18, X and Y. The carriers of the balanced reciprocal translocations considered in the present study showed a very similar pattern of sperm pathologies: diffused presence of apoptosis and immaturity. All patients showed meiotic segregation derangements, highlighted by the presence of sperm diploidies and sex chromosome disomies particularly related to the failure of the first meiotic division. However, an increased incidence of chromosome 18 aneuploidy was detected in spermatozoa from t(X;8) and t(8;10) carriers. We have also reported values from sex chromosomes such as t(X;8), although the X chromosome was involved in translocation. Since patients with reciprocal translocations and spermatogenetic impairment are candidates for intracytoplasmic sperm injection cycles, the study of sperm parameters, and particularly of the level of aneuploidy rates, would provide better information for couples at risk and would contribute to the data in the literature for a better understanding of the effects of chromosomal rearrangement on the whole meiotic process and, in particular, on chromosomes not involved in translocation.
Adult ; Aneuploidy ; Apoptosis ; Chromosome Banding ; Chromosomes, Human, X ; Chromosomes, Human, Y ; Humans ; In Situ Hybridization, Fluorescence ; Infertility, Male ; genetics ; pathology ; Lymphocytes ; physiology ; Male ; Microscopy, Electron, Transmission ; Spermatozoa ; pathology ; ultrastructure ; Translocation, Genetic

OBJECTIVETo investigate the pathogenesis of male sterility in 48,XXYY syndrome patient.

METHODSThe peripheral lymphocyte was detected by dual-color fluorescence in situ hybridization. The bioptic testicular tissues were pathologically sectioned and ultra-thin sections were examined by electron-microscopy.

RESULTSThe pathological findings revealed extremely severe dysgenesis of the badly damaged testicular tissue. Only a few convoluted seminiferous tubules were found, in which no spermatogenic cell or sperm of any range could be viewed. The ultrastructural observations showed the thickened interstitial vascular walls of the testicular tissue and severe hyperplasia of the collagen fibers in the basilemma and lumens of the blood vessels.

CONCLUSIONThe structure of the testicle in the 48,XXYY syndrome patient has severe fibrous hyperplasia, leading to the non-specific thickening of the barrier and serious damage to the blood-testis barrier, which in turn produce significant disturbance and pathological changes in the process of the spermatogenic cell formation. The whole interrelated loops account mainly for the male sterility.

Adult ; Chromosomes, Human, X ; genetics ; Chromosomes, Human, Y ; genetics ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Infertility, Male ; genetics ; pathology ; Lymphocytes ; metabolism ; Male ; Microscopy, Electron ; Sex Chromosome Aberrations ; Testis ; metabolism ; pathology ; ultrastructure

The short report will be focused on helping our students to understand commonly used conventional and cutting edge cytogenetic techniques and their clinical applications, the advances and drawbacks of each technique, and how to pick the right test(s) for a specific patient in order to achieve a proper diagnosis efficiently and economically.
Chromosomes ; ultrastructure ; Cytogenetic Analysis ; Cytogenetics ; methods ; Genetic Techniques ; Humans ; In Situ Hybridization, Fluorescence ; Molecular Diagnostic Techniques ; Nucleic Acid Hybridization ; Oligonucleotide Array Sequence Analysis ; Translocation, Genetic