Fig. 3.1 G-banded normal male karyotype illustrating the characteristic size, centromere position, and G-banding banding pattern for each human chromosome pair Chromosome Banding and Identification Launched in the early 1970s,…
Fig. 15.1 G-banded karyogram of a normal bone marrow cell Table 15.1 Glossary of cytogenetics terminology used in this chapter Acentric fragment A chromosome fragment lacking a centromere and therefore…
Tumor Chromosomal aberration(s) Gene(s) involved Clinical significance References Glial Pilocytic astrocytoma Gain of 5, 7/7q common, followed by 6, 8, 11, 12, 17, 19, 22 KIAA1549-BRAF from BRAF tandem duplication…
Fig. 9.1 Chromosome rearrangements can be produced by nonallelic homologous recombination between shared sequences or repeats of identical (direct repeats) or opposite (inverted repeats) orientation. Recombination between direct, nonallelic repeats…
Fig. 2.1 DNA structure. Schematic representation of a DNA double helix unwound to show the complementarity of bases and the antiparallel structure of the phosphate (P) and sugar (S) backbone…
Fig. 17.1 Schematic representation of the basic steps of the FISH procedure. Both the probe and chromosomal target are heat-denatured. Probe sequences hybridize to the complementary target sequences, and nonspecific…
Trisomy Maternal Paternal References MI MII MI or MII Mitotic Totala MI MII MI or MII Mitotic Totala 2 4 1 6 1 13 5 5 [30] 7 2…
Fig. 7.1 Multiprep robotic harvester. This device was designed specifically for cytogenetics laboratories, with enhancements such as automatic fixative mixing, integral fume extraction, multiple dispensing, and aspiration probes to reduce…
Type of abnormality Total abnormalities (%) Sex chromosomes, males 47,XYY 45 (0.103) 47,XXY 45 (0.103) Other 32 (0.073) Sex chromosomes, females 45,X 6 (0.024) 47,XXX 27 (0.109) Other 9 (0.036)…
Fig. 10.1 Idiograms of the X and Y chromosomes showing the pseudoautosomal regions (PAR1 and PAR2), the locations of the X-inactive-specific transcript (XIST) gene, the critical region on Xq, the…
