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Doody's Review ServiceReviewer: Luis F. Escobar, MD, MS (St. Vincent Hospital and Health Care Center)
Description: This is a magnificent discussion of the X chromosome function, mechanisms of expression, and the role of the X chromosome in embryogenesis and human pathology. It places in perspective the biological advantage that female mosaicism provides in relation to sex-specific manifestations of diseases. This wonderful book is clearly written and carefully organized into 12 easy to follow chapters. Two appendixes describe the model of X-linked and other relevant disorders and present situational descriptions of sex chromosome aneuploidies, polyploidy, and parthenogenetic conceptuses.
Purpose: As the author mentions in her introduction, "I am surprised by the relatively small impact this subject (X-chromosome, female mosaicism) has had in medicine." She points out the importance of the X chromosome from evolution to pathogenetic mechanisms and aims to detail concepts that can be used by biological scientists as well as inexperienced persons in biology. Her goals are wonderfully and accurately met.
Audience: The book is intended for physicians, medical students, genetic counselors, nurses, and other health professionals. The design enables all interested readers to understand the material well. Learning about the determinants of femaleness in this book becomes a unique discussion of current information for a vast audience. Rarely do I find a book with an unlimited audience such as this one.
Features: I was particularly fascinated by the coverage of the evolutionary origins of the Y chromosome and the biological advantage of females in terms of sex-specific disorders described in chapter 1. The 12 chapters are presented in a well-planned sequence that makes it easy for readers to understand the subject. The review of X inactivation is exquisite, but even more impressive is the discussion of the initial steps in creating the active and inactive X in chapter 6. The book includes a useful glossary and appropriate references.
Assessment: Congratulations are due to Dr. Migeon for a job well done. This is a unique book with very few omissions. Reading it is a pleasure and the author adheres to her goals and provides unique information in a manner I have not seen before. This book has no comparison and I look forward to updated editions.