No abstract available.
Child* ; Chromosome Aberrations* ; Cytogenetic Analysis* ; Cytogenetics* ; Humans

Advanced parental age is a risk factor for chromosomal abnormalities in their offspring. Trisomy X or Triple X syndrome has previously been reported with advanced maternal age. Here we report two (2) cases of Trisomy X with paternal age as risk factor. Generally, Trisomy X individuals show variable physical and psychological manifestations. However, both cases reported here have advanced paternal age as a risk factor; 55 years old (46 years old at conception) for Case 1 with patient having right eye squint, beaked nose, Posterior Misalignment Type Ventricular Septal Defect (PMVSD) and small Patent Ductus Arteriosus (PDA) with failure to thrive and 49 years old (45 years old at conception) for Case 2 with speech delay and protruding tongue. In view of that, advanced paternal age could possibly contribute the accumulation of de novo mutations in germ line mosaicism.
Cytogenetic

No abstract available.
Carcinoma, Transitional Cell* ; Cytogenetic Analysis* ; Cytogenetics* ; Urinary Bladder*

Molecular cytogenetics allows the identification of unknown chromosome rearrangements, which is clinically useful in patients with mental retardation and/or development delay. We report on a 31-year- old woman with severe mental retardation, behavior development delay, and verbal performance delay. Conventional cytogenetic analysis showed a 46,XX,add(8)(p23.3) karyotype. To determine the origin of this unbalanced translocation, we performed array CGH and subtelomeric FISH. The results showed that the distal region of chromosome 8p was added to the terminal of chromosome 13q. This was confirmed the final result of 46,XX,der(8)t(8:13)(p23.3;q32.1)dn.
Cytogenetic Analysis ; Cytogenetics ; Female ; Humans ; Intellectual Disability ; Karyotype

No abstract available.
Cytogenetic Analysis* ; Cytogenetics* ; Urinary Bladder Neoplasms* ; Urinary Bladder*

Detecting malignant cells in ascitic fluid from tumor patients is important since the existence of malignant cells in ascitic fluids is related to the prognosis of patients. Various laboratory methods are being used to obtain diagnosis in ascitic fluids, but some ascitic fluids can not be diagnosed reliably. Cytogenetic analysis of ascitic fluid is not used routinely as a laboratory tool. In this presentation a cytogenetic study of the ascitic fluids from 9 patients with malignant tumor was performed by a direct or short-term culture method. According to cytogenetic study, 5 cases had positive findings for malignant cells. One case had a inconclusive result. There were no malignant cells in the remaining 4 cases. On blind cytologic data, no informations could be obtained in 4 out of 9 cases and the remaining 5 cases had negative findings for detecting malignant cells. Among the 5 cases, cytogenetic findings were negative in 3 cases but in the remaining 2 cases, one was reported positive and the other inconclusive each other. In present study, even though the ascitic fluids from 5 patients were subjected to the comparison of the cytologic study with cytogenetic analysis, two different findings could be obtained. Therefore if further study of a large series of cancer patients with ascitic fluids is done, the value of cytogenetic analysis will be clearly shown. In addition, the cytogenetic study of cell present in ascitic fluids can be used as useful adjunct to cytologic study, and also it can indicate that more invasive diagnostic procedures are necessary.
Ascitic Fluid* ; Cytogenetic Analysis ; Cytogenetics ; Diagnosis ; Humans ; Prognosis

Background. Accidental radiation exposure can occur anytime. Biodosimeters help in quantifying the absorbed dose of individuals who are not equipped with personal dosimeters during radiation exposure. The dicentric assay can quantify radiation damage by correlating radiation dose exposure with the frequency of dicentric chromosomes in the peripheral lymphocytes extracted from exposed individuals. Objective. The study aims to present the interim results of the reference dose-response curve for a Philippine radiotherapy facility constructed using a 6MV linear accelerator (ClinacX, Varian). Methods. Samples of peripheral blood from healthy volunteers were irradiated in a customized water phantom of doses 0.10 to 5.0 Gray using a linear accelerator. The irradiated samples were cultured and analyzed following the International Atomic Energy Agency Cytogenetic Dosimetry Protocol (2011) with modifications. Linear-quadratic model curve fitting and further statistical analysis were done using CABAS (Chromosome Aberration Calculation Software Version 2.0) and Dose Estimate (Version 5.2). Interim results of the samples were used to generate these curves. Results. The dose-response curve generated from the preliminary results were comparable to published dose response curves from international cytogenetic laboratories. Conclusion. The generated dose-response calibration curve will be useful for medical triage of the public and radiologic staff accidentally exposed to radiation during medical procedures or in the event of nuclear accidents.
Cytogenetics ; Biological Assay ; Chromosome Disorders ; Cytogenetic Analysis ; Radiation

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*

To study the X chromesome masaicism in the cytogenetically pure 45,X Turner syndrome patients, we applied PCR technique using DNAs extracted from archived cytogenetic slides. We amplified the DNAs using nested primers targeted to a highly polymorphic short tandem repeat(STR) of the human androgen receptor gene(HUMARA) for the detection of X chromosome mosaicism. This assay is a very sensitive and useful method which can be applied to the DNAs extracted from archived cytohenetic slides to detect X mosaicism. We have tested 50 normal Korean females to determine whether the HUMARA locus is highly polumorphic among Koreans. 85% of Korean population showed heterozygosity in the HUMARA locus. We analysed the 24 DNAs extracted from archived slides of patients and abortuses with Turner syndrome in cytogenetic analysis. We observed the heterozygosities of 50% from pure 45,X patients, 83% from the patients with mosaic Turner syndrome and 8.3% from the abortuses of pure 45,X. Using the PCR tecjhnique of the HUMARA locus in the archived cytogenetic slides, we detected X chtomosome mosaicsm which could not be detected in cytogenetic analysis.
Cytogenetic Analysis ; Cytogenetics* ; DNA* ; Female ; Humans ; Mosaicism* ; Polymerase Chain Reaction ; Receptors, Androgen ; Turner Syndrome* ; X Chromosome

PURPOSE: This study was aimed to evaluate the incidence and karyotypes according to chromosome in 13 cases with inversion detected by cytogenetic analysis. METHODS: The incidence of inversion was calculated and karyotypes of inversion were classified according to each chromosome in cases with inversion detected from 390 individuals who had undergone cytogenetic analysis in Hanyang University Hospital from January 2005 to February 2009. RESULTS: The overall incidence of inversions was 3.3% (13/390). All of 13 cases were heterozygotes for inversions. Among these 13 inversions, 12 cases (92.3%) were having pericentric inversions showing karyotypes of 46,XX,inv(9)(p11q13) in 7 cases, 46,XX,inv(9)(p11q12) in 2 cases, and one cases of 46,X, inv(Y)(p11.3q11.23), t(8;9)(q24.3;q34.1), 46,X, del(Y)(q12), inv(Y)(p10q11. 23) and 46,XY, inv(8)(p21q24.1) respectively. Last one case (7.7%) was having paracentric inversion showing a karyotype of 46,XX,inv(9)(q22.1q34.3). Classification according to each chromosome in 13 cases with inversion was that 10 of 13 cases (76.9%) were located in chromosome 9 (9 cases of pericentric inversions and a case of paracentric inversions), 2 of 13 cases (15.4%) in chromosome Y and 1 of 13 cases (7.7%) in chromosome 8. CONCLUSION: Although patients are phenotypically normal, they might be inversion carriers. In high risk patients, inversions are more frequent than normal population. Various types of inversion could be in different chromosomes. Classification of types of inversion are needed for further genetic counseling according to the types.
Chromosomes, Human, Pair 9 ; Cytogenetic Analysis ; Cytogenetics ; Genetic Counseling ; Heterozygote ; Humans ; Incidence ; Karyotype