Download The Principles of Clinical Cytogenetics by Steven L. Gersen PDF

By Steven L. Gersen

This completely revised and accelerated version of a hugely praised vintage, the rules of scientific Cytogenetics, contains the various advances that experience happened within the box. one of the highlights are a whole part dedicated to advances in fluorescence in situ hybridization (FISH) know-how, elevated assurance of melanoma cytogenetics-both hematopoietic neoplasms and tumor cytogenetics-and new chapters on chromosome instability and the cytogenetics of infertility. The booklet bargains physicians who depend upon the cytogenetics laboratory for the prognosis in their sufferers, scholars in cytogenetics courses, and cytogeneticists the transparent figuring out they should perform and interpret their try out effects swiftly.

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DNA, Chromosomes, and Cell Division 15 Fig. 6. Overview of protein synthesis. DNA is transcribed to mRNA, which is modified to a mature transcript and then transferred to the cytoplasm of the cell. The codons are read at the ribosomes and translated with the help of tRNA. The chain of amino acids produced during translation is joined by peptide bonds to form a protein molecule. along the DNA. The looped domains coil further to give rise to highly compacted units, the chromosomes, which are visible with the light microscope only during cell division.

Continued) Human Chromosome Nomenclature 39 Fig. 5. (continued) Examples are as follows: mos 45,X[4]/46,XX[16] This is a Turner mosaic with two cell lines. Analysis of 20 cells showed that this individual has 4 cells that are 45,X and 16 cells that are 46,XX. mos 45,X[5]/47,XYY[5]/46,XY[10] This represents a mosaic with three cell lines. mos 47,XX,+13[15]/46,XX[5] This is a mosaic with both trisomy 13 and normal cell lines. 40 Avirachan Tharapel Fig. 5. (continued) Human Chromosome Nomenclature 41 Fig.

Because Robertsonian translocations are still treated as a type of whole-arm translocation, they can be adequately described using the same nomenclature: 45,XX,der(13;14)(q10;q10) This describes a Robertsonian translocation between chromosomes 13 and 14. The centromere origin is unknown, and so the breakpoints are designated as 13q10 and 14q10 to indicate that both long arms are involved. This derivative chromosome has replaced one chromosome 13 and one chromosome 14; there is no need to indicate the missing chromosomes.

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