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Anne Skomorowsky The Carriers (Hardback)
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eBay item number:315057845322
Item specifics
- Condition
- Book Title
- The Carriers
- Publication Name
- Carriers : What the Fragile X Gene Reveals about Family, Heredity, and Scientific Discovery
- Title
- The Carriers
- Subtitle
- What the Fragile X Gene Reveals About Family, Heredity, and Scien
- Format
- Hardcover
- ISBN-10
- 0231197667
- EAN
- 9780231197663
- ISBN
- 9780231197663
- Publisher
- Columbia University Press
- Genre
- Medicine
- Release Date
- 03/05/2022
- Release Year
- 2022
- Language
- English
- Country/Region of Manufacture
- US
- Item Height
- 0.1in
- Item Length
- 0.9in
- Publication Year
- 2022
- Type
- Textbook
- Item Width
- 0.6in
- Item Weight
- 18 Oz
- Number of Pages
- 280 Pages
About this product
Product Information
The Carriers investigates a common but still little-known genetic condition and its life-altering consequences. Anne Skomorowsky reveals how fragile X syndrome afflicts families across generations, telling the stories of the mothers and grandparents of fragile X patients and considering how genes interact with family dynamics.
Product Identifiers
Publisher
Columbia University Press
ISBN-10
0231197667
ISBN-13
9780231197663
eBay Product ID (ePID)
15057242647
Product Key Features
Publication Name
Carriers : What the Fragile X Gene Reveals about Family, Heredity, and Scientific Discovery
Format
Hardcover
Language
English
Publication Year
2022
Type
Textbook
Number of Pages
280 Pages
Dimensions
Item Length
0.9in
Item Height
0.1in
Item Width
0.6in
Item Weight
18 Oz
Additional Product Features
Lc Classification Number
Rj506.F73
Reviews
Who would have thought that the carrier state of a genetic mutation--fragile X syndrome--would warrant a book? With great insight and kindness, Anne Skomorowsky tells the fascinating story of a group of people who may appear unaffected but struggle mightily with a remarkable number of inherited medical conditions., Lucid, comprehensive history of Fragile X. A compassionate medical account. Blending stories and interviews with science and statistics, The Carriers balances the worldwide scope of a disease with intimate details., Skomorowsky deftly interweaves science and narrative. The heroic efforts of astute researchers ... read like a fast-paced detective story and have ramifications beyond medicine. [An] enlightening account., The Carriers represents a lucid and insightful look at the myriad consequences of an expanded CGG repeat in the DNA of the fragile X (FMR1) gene. A remarkable quality of this book is the way the author emphasizes the humanity of those experiencing the consequences of the repeat expansion, due to the gene itself and to the lack of understanding on the part of caregivers. A must-read for both clinicians and families., Wonderfully reported and written in close-up about people and their families, their tears, and medical challenges, The Carriers is the rarest book in science, a beautifully readable investigation made from a set of portraits. Like a biography of a genetic mutation, it tells the story of fragile X syndrome through people it most affects. The result is both personal and rigorous, particular and general, science that examines things, but also feels them., Exceptionally well written, organized and presented, and enhanced with an especially informative Foreword by pediatric professor and Fragile X researcher Randy J. Hagerman. Essential reading for Fragile X families, including those just learning they are carriers, and for all professional and non-specialist general readers with an interest in the complexities of heredity, the ethical dilemmas of genetic medicine, and the relationship between genes and personality., Skomorowsky's clear, frank, and compelling writing, [ensures] that this book is appealing and accessible to all audiences. In addition, she brings the vantage point of a psychiatrist who has firsthand experience working with those with intellectual disabilities. As such, she presents complex and comprehensive scientific information about fragile X and the premutation in a simple and engaging manner. The book is well researched, captivating, and an important contribution to better understanding our relationship with genes., The Carriers offers a lucid and insightful look at the many consequences of an expansion-type mutation of the fragile X gene. A remarkable quality of this book is the way Anne Skomorowsky emphasizes the humanity of those experiencing its consequences, because of the gene itself and the lack of understanding on the part of caregivers. A must-read for both clinicians and families., Exceptionally well written, organized and presented. . . . Essential reading for fragile X families, including those just learning they are carriers, and for all professional and non-specialist general readers with an interested in the complexities of heredity, the ethical dilemmas of genetic medicine, and the relationship between genes and personality., This is the book I wish I'd had when my bloodwork came back mid-pregnancy, and the book I'm glad my daughter will have. I'm grateful that Skomorowsky, a gifted writer and practitioner, has woven together narrative and research to help us see and understand what is invisible and unknown to so many of us.
Table of Content
Foreword, by Randi Hagerman, MD Introduction: The Carriers 1. One Damn Thing After Another 2. Fragile X Mutations: An Overview 3. Village of Fools: How Carriers Brought Fragile X to Colombia, and What Happened Next 4. A Classic Zebra: Fragile X-Associated Primary Ovarian Insufficiency (FXPOI) 5. The Movement Disorder That Started a Movement: Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) 6. Once More, with Feelings: Fragile X-Associated Neuropsychiatric Disorders (FXAND) 7. What Are Fragile Eggs? To Test or Not to Test 8. Borderlands of the Premutation: Gray Zones, Low-Normals, and Endophenotypes 9. Outcomes Notes Acknowledgments Index
Topic
Pediatrics, Psychopathology / Autism Spectrum Disorders, Genetics, Psychiatry / General
Lccn
2021-034141
Dewey Decimal
618.92/858841
Intended Audience
Trade
Dewey Edition
23
Illustrated
Yes
Genre
Psychology, Medical
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