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

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.
Carcinoma, Transitional Cell* ; Cytogenetic Analysis* ; Cytogenetics* ; 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

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

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*

PURPOSE: This study was performed to detect malignant cells in suspicious cases of malignant pleural effusion by cytogenetic analysis. MATERIALS AND METHODS: Eleven cases with pleural effusion were included in this study. Cells in pleural effusion were treated by direct, or short term, culture to prepare chromosomes. To analyze chromosomes, the G-banding method was used. RESULTS: Chromosome preparations succeeded in 10 cases. 5 cases had normal karyotypes, but in 2 of these cases malignant cells were detected on cytological examination. The other 5 cases had abnormal chromosomes, but on cytological examination showed normal cell appearances. CONCLUSION: Cytogenetic analysis of pleural effusions is not used routinely, but is more sensitive than the cytological examination of malignant pleural effusions. So, chromosome analysis is a good diagnostic tool, when chromosomal abnormalities are detected in an effusion. If a combination of cytology and cytogenetic study are used, the chance of detecting malignant cells in pleural effusion will be higher, and then more invasive diagnostic procedures, such as thoracoscopy or thoracotomy, could be avoided.
Chromosome Aberrations ; Cytogenetic Analysis ; Cytogenetics* ; Karyotype ; Pleural Effusion ; Pleural Effusion, Malignant* ; Thoracoscopy ; Thoracotomy

PURPOSE:This study was aimed to evaluate the incidence of translocation and types of translocations (reciprocal or Robertsonian) in cases of cytogenetic analysis. Method:The incidence of translocation was calculated and types of translocation were classified in 390 individuals who perfomed cytogenetic analysis in Hanyang University Hospital from January, 2005 to February, 2009. RESULTS:The overall incidence of translocation was 3.1% (12/390). Among these translocations, 8 cases were having reciprocal translocations showing karyotypes of 47,XXY,t(11;22)(q23;q11.2), 46,XY,t(4;8)(q31.1;q11.2), 46,X,inv(Y)(p11.3q11.23),t(8;9)(q24.3;q34.1), 46,XY,t(14;16)(q32;q22), 46,XX,t(6;7)(q27;p11.2), 46,XX,t(1;4)(q25;q33), 46,XX,t(3;5)(q25;q22) and 46,XX,t(1;2)(p36.1;p25.1) in each. Last 4 cases of translocations were Robertsonian translocations showing karyotypes of 45,XY,der (13; 15)(q10;q10), 45,XY,der(13;14)(q10;q10), 45,XY,der(13;14)(q10;q10)and 45,XX,der (22;22)(q10;q10) in each. CONCLUSION:Although patients are phenotypically normal, they might be balanced translocation carriers. In high risk patients, translocations are more frequent than normal population. Classification of translocation is necessary for further genetic counseling according to the types.
Abortion, Habitual ; Cytogenetic Analysis ; Cytogenetics ; Female ; Genetic Counseling ; Humans ; Incidence ; Karyotype ; Pregnancy