ABSTRACT
Ring chromosome aberration are rare abnormality potentially involving any chromosome in patients diagnosing in Oncology. The present review and case study has focused on the ring chromosome associated with oncology malignancies. An electronic peer review article search was performed systematically to obtain relevant literature with the CINAHL, Google scholar, and Pub Med databases. The keywords included marker, abnormalities, structural, Ring chromosome. The inclusion criteria for the review were that the documents were original quantitative research and published in English. This was also initiated using Medline, Mitelman database [http:/cgap.nci.nih.gov/Chromosomes/Mitelman], Danish cytogenetic register and other pertinent web references on ring chromosomes in Oncology malignancies. Articles that were not directly relevant to the present objective were excluded. Also the un-stimulated bone marrow specimen of present case manipulated with Methotrexate cells culture synchronization and finally was treated by GTG-banding technique. Ring chromosome was observed in 10% of the total cells. Cytogenetic analysis demonstrated apparently ring [15] 46, XY, r[15] karyotype. The clinical findings revealed history of nausea, loss of appetite, diarrhea, night sweats, and a weight loss, anemia and diagnosed as accelerated CML. Our finding adds to the spectrum of both morphology and genetic rearrangements in oncology malignancies. Additional future analyses in similar subject will be necessary to draw firm conclusions
ABSTRACT
Acute Meyloid Leukemia [AML] in adults is known to be a heterogeneous disease with diverse chromosome abnormalities. Some of these chromosome abnormalities are found with a high incidence in populations from specific geographical areas and ethnic societies. Therefore, we studied the cytogenetic features of AML cases in contrasting societies of Iran and India. Cytogenetic investigation was performed in various subtypes of AML with unstimulated short-term culture and High Resolution Cell Synchronization with some modification. Cytogenetically, Iranian M3 displayed a higher frequency of t[15;17] than Indian M3 [33.8% vs 19.3%] followed by M2 [t[8;21] [27.7% vs 16.2%]] and M1 [t[9;22] [16.0% vs 11.3%]]; whereas, inv[16]11q23 and numerical chromosomal aberrations in chromosome 5,7,8 occurred more frequently in Indian than Iranian. These findings represented different cytogenetic characteristics of t[15;17] between the two populations. This is the first systematic cytogenetic study of an ethnic Iranian population. Extensive biological studies of AML in Iran and India and various countries to be needed to clarify the role of genetic as well as geographic heterogeneity in the pathogenesis of AML
Subject(s)
Humans , Male , Female , Leukemia, Myeloid, Acute/ethnology , CytogeneticsABSTRACT
The purpose of this study was to determine the incidence of congenital and genetic anomalies in two major referral hospitals and medical Genetic center in a population of Ghazvin Province. A cross sectional study was performed between 2000- 2004 on 33380 children from infancy to age 8 years. The precise and confirmed diagnosis of genetic and congenital anomalies was elaborated by reviewing pedigree of family population screening, genetic records of family data, routine tests such as application of molecular and karyotype and other essential information have been approached. In total, the more frequent malformation associated congenital anomalies among our patients was inborn error of metabolism [7.18%] followed by disorder of congenital hearth defects [6%]. We suggest a possible role of various factors such as different geographical may influence dissimilarities between present study and other population. Also the necessity of particular attention and emphasize on special screening program that helps to identify early stages of genetic and congenital malformation. These results together provide information to physicians and genetic counselors to realize contribution of congenital abnormalities and setting priorities of screening individual cases