Multiple myeloma (MM) is a heterogeneous clonal malignancy of plasma cells characterized by cytogenetic and molecular abnormalities. Chromosomal abnormalities are present at diagnosis can evolve during the progression MM. Metaphase karyotyping fluorescence in situ hybridization considered standard diagnostic procedures performed clinical practice. These test results required to determine Revise...

There is convincing evidence suggesting a potential benefit of chromosomal microarray analysis for fetal abnormalities beyond conventional fetal karyotyping. Microarray chromosomal genomic hybridization (a-CGH) may provide submicroscopic rearrangements especially duplicated or deleted portion of the DNA also known as copy number variants (CNVs). A limitation of chromosomal microarray analysis i...

Genetic studies of children with mental retardation Saideh Rajaei Department of Medical and Clinical Genetics, Institute of Biomedicine The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden, 2013 Mental retardation (MR) is characterised by significant limitations in intellectual function and adaptive behaviour. It is estimated that MR affects up to 3% of the population ...

Noninvasive prenatal testing (NIPT) and direct karyotyping of cytotrophoblast were normal for a male fetus, but cultured chorionic villus mesenchymal cells and umbilical cord fibroblasts showed nonmosaic trisomy 18. This observation provides direct evidence for the cytotrophoblastic origin of cell-free fetal DNA and yields a biological explanation for falsely reassuring NIPT results.

Diffuse large B-cell lymphoma in rare instances can present initially in a leukemic phase and mimic other lymphoid diseases. In such cases, advanced diagnostic testing including immunophenotyping, FISH analysis, and karyotyping can help determine the accurate diagnosis which is key in the management of the disease.

We have developed a method for genomic representation using Type IIB restriction endonucleases. Representation by concatenation of restriction digests, or RECORD, is an approach to sample the fragments generated by cleavage with these enzymes. Here, we show that the RECORD libraries may be used for digital karyotyping and for pathogen identification by computational subtraction.