Malformasi kongenital multipel (MKM) non-sindromik merupakan penyakit neonatal dengan mortalitas tinggi, menurunkan kualitas hidup anak dan mahalnya biaya perawatan. Untuk mendiagnosis MKM-non-sindromik diperlukan analisis kromosom secara akurat terjangkau yaitu metode G-banding, namun detection rate belum diketahui. Penelitian bertujuan untuk mengetahui proporsi MKM yang dapat didiagnosis G-ba...

Deletion of the long arm of chromosome 6 (6q) is one of the most common chromosomal alterations in human B-cell lymphomas. Conventional cytogenetic banding analysis and loss-of-heterozygosity (LOH) studies have detected several common regions of deletion ranging across the entire long arm (6q), with no defined recurrent breakpoint yet identified. We describe here a strategy combining chromosome...

background : according to the literature, there are a number of chronic and acute myeloid leukemias with unique, complex chromosome translocations. this study aims to conduct a brief review of the incidence of complex chromosome translocations in myeloid leukemia and reports a case of myeloid leukemia with complex chromosome translocations. methods :we conducted a web-based search for all peer ...

Smith-Magenis syndrome (SMS) is a complex congenital anomaly characterized by craniofacial anomalies, neurological and behavioral disorders. SMS is caused by a deletion in region 17p11.2, which includes the RAI1 gene (90% of cases), or by point mutation in the RAI1 gene (10% of cases). Laboratory diagnosis is through cytogenetic analysis by GTG banding and molecular cytogenetic analysis b...

Conventional method to identify and classify individual chromosomes depends on the unique banding pattern of each chromosome in a specific species being analyzed (1, 2). This classical banding technique, however, is not reliable in identifying complex chromosomal aberrations such as those associated with cancer. To overcome the limitations of the banding technique, Spectral Karyotyping (SKY) is...

Session 4 Conventional and Novel Methodologies for Plant Improvement ABSTRACT Chromosomes of two diploid (2n=2x=16) subspecies of Medicago sativa, ssp. caerulea and ssp. falcata, their hybrid and tetraploid (2n=4x=32) cultivated alfalfa (M. sativa, ssp. sativa) were studied. Feulgen’s staining, Cand N-banding techniques and an image analysis system were used. The chromosomes of ssp. falcata hav...

The chromosomes of one Cichlasoma facetum and three Geophagus brasiliensis populations from the headwaters of adjacent river basins (Paraná State, southern Brazil), were investigated using differential staining techniques (C-banding, Ag-NORs, DAPI and CMA3) and fluorescent in situ hybridization (FISH) with 18S rDNA and 5S rDNA probes. The diploid chromosome number (2n) was invariably 48 in the ...

Phyllotisxanthopygus (Waterhouse, 1837) is an Andean rodent endemic to South America. Despite its wide geographical distribution in Argentina, few individuals have been studied on the cytogenetic level and only through conventional staining. In this work, chromosome characterization of Argentine samples of this species was performed using solid staining, C-banding and base-specific fluorochrome...

Studies of karyotypes have been revealing important information on the taxonomic relationships and evolutionary patterns in various groups of birds. However, the order Caprimulgiformes is one of the least known in terms of its cytotaxonomy. So far, there are no cytogenetic data in the literature on birds belonging to 3 of 5 families of this order -Nyctibiidae, Steatornithidae and Aegothelidae. ...