Chromosome Abnormalities and Genetic Counseling: No.29 - Rilegato

Gardner, R. J. M.

Rilegato

ISBN 10: 0195106156 ISBN 13: 9780195106152

Casa editrice: Oxford University Press Inc, 1996

Riassunto

There have been many advances in clinical cytogenetics since the first edition of this book appeared in 1989. The authors have written more expansively on segregation and risks in reciprocal translocations, X-autosome translocations, inversions, insertions, and prenatal diagnosis. The deletion syndromes have become more numerous, and more precisely defined, and this required treatment. Fluorescence in situ hybridization has become a routinely applied methodology, and its use has extended the power, and increased the sophistication, of the discipline of clinical cytogenetics. The Human Genome Project is unravelling the complexity of our genetic inheritance, and readers will find evidence of its impact on the practicalities of human cytogenetics throughout the book. Two phrases not used at all in the first edition are dynamic mutation and genomic imprinting. The fragile X syndrome now has the status of the prototypical dynamic mutation. The authors completely rewrote this chapter, giving it a much more molecular character. The Prader-Willi and Angelman syndromes, likewise, have become the classic examples of genomic imprinting and uniparental disomy.

Su questo libro

Product Description:

Book by Gardner R J M Sutherland G R

Su questa edizione

• Editore: Oxford University Press Inc
• Data di pubblicazione: 1996
• ISBN 10: 0195106156
• ISBN 13: 9780195106152
• Rilegatura: Copertina rigida
• Numero edizione: 2
• Numero di pagine: 494