Disease relevance of Karyotyping

• When the analyses were stratified according to the results of karyotyping, the ingestion of moderate or high levels of caffeine was found to be associated with an excess risk of spontaneous abortion when the fetus had a normal or unknown karyotype but not when the fetal karyotype was abnormal [1].
• In this study, digital karyotyping was used to search for genomic alterations in liver metastases that were clinically resistant to 5-fluorouracil (5-FU) [2].
• Digital karyotyping identifies thymidylate synthase amplification as a mechanism of resistance to 5-fluorouracil in metastatic colorectal cancer patients [2].
• Here, we present 21 new cases with myelodysplasia, acute myeloid leukemia or CML in blast crisis, which upon karyotyping showed the presence of a t(2;3) [3].
• Selection of cases for karyotyping by a low level of AF-AFP would clearly fail to detect aneuploidies other than Down syndrome and is not recommended [4].

High impact information on Karyotyping

• Direct gene analysis was used in the prenatal exclusion of ornithine transcarbamylase (OTC) deficiency; karyotyping the family's previously affected child had already identified the defect as a small deletion [5].
• Novel molecular karyotyping methods, such as array-based comparative genomic hybridization (array CGH), can detect submicroscopic chromosome alterations at a resolution of 100 kb [6].
• Our results indicate that the diagnostic yield of this approach in the general population of patients with MR is at least twice as high as that of standard GTG-banded karyotyping [6].
• None would have warranted karyotyping for clinical suspicion of Turner syndrome [7].
• After a short-term (3-day) liquid culture, the cells were harvested, incorporated in methyl-cellulose, and individual colonies were analyzed by single colony karyotyping [8].

Biological context of Karyotyping

• NF2 status was determined by LOH analysis, karyotyping and FISH [9].
• In addition, in patients with CML karyotyping and analysis of bcr/abl gene rearrangement was performed [10].
• Molecular typing was performed by a PCR-based method using the minisatellite-specific core sequence (M13), by electrophoretic karyotyping, by restriction fragment length polymorphisms with the C. neoformans transposon 1 (TCN-1), and by URA5 DNA sequence analysis [11].
• However, she remained clinically well and further analysis y karyotyping of PHA-cultured peripheral blood mononuclear cells (PBMC) showed donor metaphases (XY) only [12].
• The failure rate of post-termination karyotyping was significantly influenced by delivery-sampling interval, but not by gestational age, type of tissue sampled, use of potassium chloride, or aneuploidy [13].

Anatomical context of Karyotyping

• The diagnosis of androgen resistance can be quite cumbersome, including analysis of the family history, karyotyping, endocrine studies, measurement of androgen binding in genital skin fibroblasts, and, in some instances, sequencing of mutant cDNAs [14].
• Comparison of three BHH hybrid clones-BHH3, BHH8, and BHH2C-with 293-Puro (puromycin-resistant 293 cells) and MDBK-Neo (G418-resistant MDBK cells) cell lines for total cellular DNA content, species-specific surface markers, isoenzyme analysis, and karyotyping indicate that they are hybrid in nature [15].
• Although different cell populations, especially T cells, showed mitotic activity in unstimulated short term culture, combined immunophenotyping and karyotyping unequivocally demonstrated that CD30 and CD15 positive Hodgkin and Sternberg-Reed cells represented the chromosomally aberrant clones [16].
• INTERVENTION(S): Peripheral blood lymphocytes were obtained for karyotyping, and metaphases were studied by standard GBG, RBG, and CBG banding procedures [17].
• Diagnostic methods included fetal ultrasound, amniocentesis for fetal karyotyping and amniotic fluid AFP/acetylcholinesterase (AChE) and/or fetal karyotyping after delivery, and dysmorphology evaluation of the fetus after intact delivery [18].

Associations of Karyotyping with chemical compounds

• Isolates were subtyped by multilocus enzyme electrophoresis (MEE), electrophoretic karyotyping (EK), random-amplified polymorphic DNA (RAPD), and the CNRE-1 DNA probe, MICs of amphotericin B, fluconazole, and 5-fluorocytosine were determined [19].
• DNA fingerprinting with a digoxigenin-labeled C. albicans repetitive element 2 probe and electrophoretic karyotyping showed two distinct banding patterns among patient isolates [20].
• Genetics and electrophoretic karyotyping of wild-type and astaxanthin mutant strains of Phaffia rhodozyma [21].
• Although one mole showed a heterozygous DRB type, karyotyping indicated triploidy (69, XXX) and suggested that this mole was caused by dispermy-fertilization, in which both of the sperms had the same DRB type [22].
• In the past, computer-aided karyotyping was done by using the 4',6-diamidino-2-phenylindole, dihydrochloride (DAPI)-inverse images, which required complex image enhancement procedures [23].

Gene context of Karyotyping

• Conventional karyotyping revealed no evidence for a deletion and all or a majority of the affected family members were heterozygous for closely linked markers which mapped proximal to the NEFH locus (D22S1 and D22S56) and for the distal marker D22S32 [24].
• PCR karyotyping that refined the region on chromosome 6 identified CRSP3/DRIP130, a transcriptional coactivator, as a metastasis suppressor [25].
• The case also highlights the importance of karyotyping for differentiating LWD and TS, especially in patients with findings such as premature ovarian failure or aortic abnormalities not associated with isolated SHOX haploinsufficiency [26].
• Comparative genomic hybridization suggested that the homozygous deletions of the p15, p16 and p14 were subtle chromosomal deletions and could not be identified by standard karyotyping in some cases [27].
• Non-S. cerevisiae clones were identified as Saccharomyces uvarum by PCR-RFLP on MET2 gene and characterized at the strain level by karyotyping [28].

Analytical, diagnostic and therapeutic context of Karyotyping

• Standard karyotyping, spectral karyotyping, and fluorescent in situ hybridization (FISH) were performed before and after c-Myc activation [29].
• The diagnosis was confirmed by karyotyping in 46 and by RT-PCR of the PML/RARalpha transcript in 45 cases [30].
• METHODS: Clinical assessment, karyotyping, endocrine evaluation, fluorescence in situ hybridization, and polymerase reaction chain analysis of the Y-chromosome loci [31].
• The most recent clinical advance is a program of combined prenatal diagnosis with karyotyping and suppression of fetal androgen production in genetic females by steroid administration to the mother [32].
• The diagnosis of ventral wall defect should be made prenatally, with obstetric ultrasonography, maternal serum alpha-fetoprotein screening and fetal karyotyping [33].

References