The Cytogenetics of Hematologic Neoplasms

Jun 17, 2017 by in BIOCHEMISTRY Comments Off on The Cytogenetics of Hematologic Neoplasms

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…

read more

The Cytogenetics of Solid Tumors

Jun 17, 2017 by in BIOCHEMISTRY Comments Off on The Cytogenetics of Solid Tumors

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…

read more

Structural Chromosome Rearrangements

Jun 17, 2017 by in BIOCHEMISTRY Comments Off on Structural Chromosome Rearrangements

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…

read more

DNA, Chromosomes, and Cell Division

Jun 17, 2017 by in BIOCHEMISTRY Comments Off on DNA, Chromosomes, and Cell Division

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…

read more

Fluorescence In Situ Hybridization (FISH)

Jun 17, 2017 by in BIOCHEMISTRY Comments Off on Fluorescence In Situ Hybridization (FISH)

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…

read more

Autosomal Aneuploidy

Jun 17, 2017 by in BIOCHEMISTRY Comments Off on Autosomal Aneuploidy

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…

read more

Instrumentation in the Cytogenetics Laboratory

Jun 17, 2017 by in BIOCHEMISTRY Comments Off on Instrumentation in the Cytogenetics Laboratory

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…

read more

Prenatal Cytogenetics

Jun 17, 2017 by in BIOCHEMISTRY Comments Off on Prenatal Cytogenetics

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)…

read more
Get Clinical Tree app for offline access