objective: approximately 15-20% of clinically recognizable pregnancies end in spontaneous abortion. the incidence of chromosomal abnormalities in those abortions is as high as 50%.a modest but clinically important proportion of spontaneous abortions is caused by a balanced chromosomal aberration in one of the parents. this results from the production of gametes and embryos with unbalanced chrom...

downs syndrome (ds) is one of the most common chromosomal abnormalities (1 in 700-1000 births) and one of the main causes of mental retardation. therefore, diagnosis and prevention of live-born children with ds is a principle priority for the iranian ministry of health. this study was performed to evaluate the application of real-time qpcr technique for rapid diagnosis of ds. about 15-20 millil...

PURPOSE We analyzed CD34+ cells coexpressing CD7 in chronic myeloid leukemia (CML) in chronic phase (CP) or accelerated phase (AP) to clarify their role in progression or regression of the disease during treatment. EXPERIMENTAL DESIGN Enumeration of CD34+CD7+ cells was done on bone marrow nucleated cells from normal donors and CML patients. Fluorescence in situ hybridization analysis was done...

The malignant cells in many patients who have leukemia, lymphoma, or another hematologic neoplasm have acquired clonal chromosomal abnormalities. Specific cytogenetic abnormalities are closely, and sometimes uniquely, associated with morphologically and clinically distinct subsets of leukemia or lymphoma (1,2). The detection of a cytogenetic abnormality clearly distinguishes between benign reac...

BACKGROUND AND OBJECTIVES Imatinib induces complete cytogenetic responses (CCR) in the majority of patients with chronic myeloid leukemia (CML) in chronic phase (CP). However, a subgroup of patients is refractory at the cytogenetic level. Clinically, it would be advantageous to identify such patients a priori, since they may benefit from more aggressive therapy. DESIGN AND METHODS To elucidat...

OBJECTIVES To analyze chromosomes in children with suspected genetic disorder and to categorize the chromosomal basis of genetic disorder. MATERIALS AND METHODS Thirty children were selected from the patients attending genetic clinic, Department of Pediatrics, B.P. Koirala Institute of Health Sciences presenting with dysmorphic feature, mental retardation, short stature, congenital malformati...

Trisomy 8 is a common anomaly in bone marrow (BM) cells of patients with myeloproliferative disorders (MPD), myelodysplastic syndromes (MDS), or acute nonlymphocytic leukemia (ANLL). We studied the efficacy of fluorescence in situ hybridization (FISH) detection of trisomy 8 in patients with MPD, MDS, or ANLL using directly labeled fluorescent alpha-satellite and whole chromosome paint (WCP) DNA...

Chromosomal analysis of amniotic cell culture revealed an extra euchromatic band in the variable heterochromatin region 9q12. Cytogenetic analysis of the fetus was compared with the chromosomes of the parents. Using different cytogenetic banding techniques and fluorescence in situ hybridization with specific DNA probes, the structural rearrangements involved were considered. The very rare varia...

In recent years, advances in the molecular cytogenetic technique of fluorescence in situ hybridization (FISH), which enables the direct chromosomal localization of labelled DNA probes and genomic in situ hybridization (GISH), which determines the inter-species distribution of repeated sequences have enabled a resurgence of cytogenetic analysis in plant genome research and molecular breeding. Pr...

PURPOSE The metaphase karyotype is often used as a diagnostic tool in the setting of early miscarriage; however this technique has several limitations. We evaluate a new technique for karyotyping that uses single nucleotide polymorphism microarrays (SNP). This technique was compared in a blinded, prospective fashion, to the traditional metaphase karyotype. METHODS Patients undergoing dilation...