The Carriers : : What the Fragile X Gene Reveals About Family, Heredity, and Scientific Discovery / / Anne Skomorowsky.
A tiny mutation on the X chromosome can shape a family’s history. Passed down from a “carrier” parent to a child, fragile X syndrome is the most common inherited cause of intellectual disability and autism. Beyond that—and a rarity among genetic disorders—some fragile X carriers not only transmit th...
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| Superior document: | Title is part of eBook package: De Gruyter Columbia University Press Complete eBook-Package 2022 |
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| Place / Publishing House: | New York, NY : : Columbia University Press, , [2022] ©2022 |
| Year of Publication: | 2022 |
| Language: | English |
| Online Access: | |
| Physical Description: | 1 online resource :; 10 figures/tables |
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Table of Contents:
- Frontmatter
- CONTENTS
- FOREWORD
- INTRODUCTION. THE CARRIERS
- Chapter One. ONE DAMN THING AFTER ANOTHER
- Chapter Two. FRAGILE X MUTATIONS: AN OVERVIEW
- Chapter Three. VILLAGE OF FOOLS: HOW CARRIERS BROUGHT FRAGILE X TO COLOMBIA, AND WHAT HAPPENED NEXT
- Chapter Four. A CLASSIC ZEBRA: FRAGILE X– ASSOCIATED PRIMARY OVARIAN INSUFFICIENCY (FXPOI)
- Chapter Five. THE MOVEMENT DISORDER THAT STARTED A MOVEMENT: FRAGILE X– ASSOCIATED TREMOR/ATAXIA SYNDROME (FXTAS)
- Chapter Six. ONCE MORE, WITH FEELINGS: FRAGILE X– ASSOCIATED NEUROPSYCHIATRIC DISORDERS (FXAND)
- Chapter Seven. WHAT ARE FRAGILE EGGS? TO TEST OR NOT TO TEST
- Chapter Eight. BORDERLANDS OF THE PREMUTATION: GRAY ZONES, LOW- NORMALS, AND ENDOPHENOTYPES
- Chapter Nine OUTCOMES
- NOTES
- ACKNOWLEDGMENTS
- INDEX