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Download e-book for kindle: Atlas of Human Chromosome Heteromorphisms by Herman E. Wyandt (auth.), Herman E. Wyandt PhD, FACMG, Vijay

By Herman E. Wyandt (auth.), Herman E. Wyandt PhD, FACMG, Vijay S. Tonk PhD, FACMB (eds.)

Critical to the exact prognosis of human ailment is the necessity to distinguish scientific positive factors that fall in the common variety from those who don't. That contrast is usually tough and never occasionally calls for significant event on the bedside. it's not wonderful that exact cytogenetic prognosis is additionally usually a problem, particularly whilst chromosome examine finds morphologic findings that increase the query of normality. Given the conclusion that smooth human cytogenetics is simply over 5 many years previous, it really is noteworthy that thorough documentation of standard chromosome var- tion has now not but been comprehensive. One key diagnostic end result of the shortcoming to tell apart a “normal” edition in chromosome constitution from a pathologic switch is a neglected or erroneous prognosis. scientific cytogeneticists haven't, besides the fact that, been idle. quite, innovative biotechnological advances coupled with digital of entirety of the human genome undertaking have yielded more and more larger microscopic solution of chromosome constitution. Witness the growth from the early brief condensed chromosomes to the later visualization of chromosomes via banding thoughts, hello- answer research in prophase, and extra lately to research by way of fluorescent in situ hybridization (FISH).

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13]) 36 NORMAL POPULATION STUDIES Q-bright end of the Y was dark by G- and C-banding. In small Y’s the Q-bright region is greatly diminished in size or even absent [32,33]. A number of studies revealed racial differences, particularly in the frequency of large Y’s. Based on the length of the Y chromosome, it was hypothesized that the large Y could have originated in a population of Mediterranean origin [34]. Other variant forms of the Y in normal males included pericentric inversions and satellited Y’s.

GC in different regions are not as great as might be implied. 2 Banding nomenclature (adapted from Paris Conference Supplement, 1975) [32] G-Banding GTG GTL GTW GPG GAG & GSG GUG Q-Banding QFQ QFH C-Banding CBG R-Banding RFA RHG RBA G bands by trypsin and Giemsa stain G bands by trypsin and Leishman stain G bands by trypsin and Wright’s stain G bands by pancreatin and Giemsa stain G bands by acetic saline and Giemsa stain G bands by urea and Giemsa stain Q bands by fluorescence and quinacrine stain Q bands by fluorescence and Hoechst 33258 stain C bands by barium hydroxide and Giemsa stain R bands by fluorescence and acridine orange stain R bands by heating and Giemsa stain R bands by BudR and acridine orange stain interspersion of GC within short highly repetitive AT-rich sequences appears to play a significant role [41].

Because of the ease with which the G-banded chromosomes can be analyzed under light microscopes, it has become the banding method of choice in the majority of laboratories around the world. In order to differentiate the various banding methods the Paris Conference devised a three-letter coding system. In this system the first letter describes the type of banding, the second letter the technique or the agent used to obtain the banding pattern, and the third letter to describe the stain used. 2).

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