| dc.description.abstract | This book presents a comprehensive introduction to the principles of human
cytogenetics and provides examples of their applications, especially those
that are important in diagnostic and preventive medicine. The authors have each
worked in human cytogenetics for more than 40 years and have witnessed firsthand
the enormous strides made in the field during this time . The many advances
made since the third edition of this book reflect the rapidly growing application
of molecular biological techniques and concepts by human cytogeneticists.
Insertion of transposable elements, genomic imprinting, and expansion of trinucleotide
repeats are only a few of the important cytogenetic mechanisms that
have been discovered and shown to playa role in producing disease phenotypes.
Molecular cytogenetic methods have taken center stage in cancer studies with
the demonstration that cancers arise by chromosomal mechanisms such as gene
amplification, oncogene activation by chromosome rearrangement, ectopic
recombination leading to loss of heterozygosity, and multiple mechanisms
leading to genome destabilization. | en_US |
