Introduction: Karyotyping is the process of pairing and ordering all the chromosomes of an organism, thus providing a genome-wide snapshot of an individuals chromosome. G-banded karyograms are routinely used to diagnose a wide range of chromosomal abnormalities in individuals. Although the resolution of chromosomal changes detectable by G-banded karyotyping is typically a few megabases, this can be sufficient to diagnose certain categories of abnormalities. Objectives: The primary aim of this study was to investigate the different types of chromosomal aberrations and their relative frequencies in a group of referred patients with suspected genetic disorders. Methods: This observational study was carried out at Armed Forces Institute of Pathology (AFIP) for a period of two years from January 2011 to December 2012. A total of 131 patients were included in this study. These patients were referred to AFIP from different Combined Military Hospitals (CMH) of Bangladesh Army and also from civil medical installations. All the patients were subjected to full genetic study; complete genetic examination and pedigree construction was done to exclude nonchromosomal causes of anomaly. Detailed history and physical findings were also noted in a prescribed format. The study included peripheral lymphocyte culture by a standard method using the Gbanding technique. 32 JAFMC Bangladesh. Vol 9, No 2 (December) 2013 Results: Out of 131 patients, 54 (42.2%) were male and 77 (57.8%) were female with male to female ratio 0.7:1. The age limit of the patient ranges from 04 days to 70 years. Most of the patients (32.1%) were in the age group of 010 years followed by 2130 year age group (30.5%). Consanguineous marriage was found in 15 (11.5%) cases in which 3 (2.3%) cases had chromosomal aberrations. Recurrent abortion was the main clinical indication (18.3%) followed by infertility (15.3%). Chromosomal aberrations were detected in 26 patients (19.8%); of these, 20 (15.2%) involved autosomes, while only 6 (4.6%) involved gonosomes. Trisomy 21 was detected in 12 (9.1%) patients and Philadelphia chromosome was found in 8 (6.1%) patients. Turner syndrome was detected in 5 (3.8%) patients and Klinefelter syndrome was found in 1 (0.8%) patient. Conclusion: The precise delineation of different types of chromosomal aberrations is only possible using clinical examination and advanced cytogenetic tools by experienced cytogeneticists. DOI: http://dx.doi.org/10.3329/jafmc.v9i2.21823 Journal of Armed Forces Medical College Bangladesh Vol.9(2) 2013
Introduction: The inherited disorders of haemoglobin are the commonest single-gene disorders with an estimated carrier rate of 7% among the world population. They occur at particularly high frequencies in population of the tropical and subtropical belt. Objective: To find out the electrophoretic pattern of haemoglobin disorders and to evaluate and compare the diseases in study population. Methods: A total number of 1370 subjects of both sexes with age range from 6 months to 73 years were included in the study. The study was conducted in Haematology Department of Armed Forces Institute of Pathology, Dhaka. It was carried out from January to December 2012. Patients were selected on the basis of morphological blood film examination and electrophoresis on cellulose acetate at PH 8.6. Results: Among the 1370 subjects, Beta thalassaemia trait was observed in 532(38.83%) cases, HbE trait in 313(22.85%), HbE-Beta thalassaemia in 282(20.58%), HbE disease in 146(10.66%) and Beta thalassaemia major in 97(7.08%) cases. Conclusion: The study reveals that, hereditary haemoglobin disorders are common in Bangladesh and are inherited as autosomal recessive Mendelian pattern affecting both male and female. DOI: http://dx.doi.org/10.3329/jafmc.v9i2.21827 Journal of Armed Forces Medical College Bangladesh Vol.9(2) 2013
A 60 years old lady, a diagnosed case of hypertension and hypothyroidism, admitted in CMH Dhaka with the complaints of high grade continuous fever, headache, vomiting and lower abdominal pain following total hysterectomy about two weeks back. On general and physical examination, she was found febrile, mildly anaemic, pitting oedema over both legs and erythematous skin rash over face, trunk and extremities. Relevant laboratory investigations were done including bone marrow aspiration which revealed haemophagocytic lymphohistiocytosis. Journal of Armed Forces Medical College Bangladesh Vol.11(2) 2015: 89-90
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