The carriers :: what the fragile X gene reveals about family, heredity, and scientific discovery /
"Fragile X syndrome is a genetic condition that causes a range of neurodevelopmental problems including learning disabilities and cognitive impairment. Boys with the condition are more likely to be born fully affected by it, while women who are seemingly unaffected carriers have an increased ri...
Gespeichert in:
| 1. Verfasser: | |
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| Format: | Elektronisch E-Book |
| Sprache: | English |
| Veröffentlicht: |
New York :
Columbia University Press,
[2022]
|
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Zusammenfassung: | "Fragile X syndrome is a genetic condition that causes a range of neurodevelopmental problems including learning disabilities and cognitive impairment. Boys with the condition are more likely to be born fully affected by it, while women who are seemingly unaffected carriers have an increased risk of giving birth to an affected child. Recent research indicates that Fragile X syndrome is highly unusual in the world of genetic disorders, in that carriers, who were previously thought to show no symptoms at all, are in fact affected in their own ways: into adulthood, they can develop personality and emotional changes, tremors, and difficulty walking. The title characters in The Carriers, then, are the previous generations--mothers and grandparents--of fully affected Fragile X patients. This book aims to tell the stories of how families are affected by this genetic disorder over generations, as well as the initial science that discovered it and the current science that's teaching us how Fragile X is affecting silent carriers in ways that weren't previously recognized. Understanding psychiatric symptoms in premutation carriers is complicated by the fact that many are caring for children with Fragile X syndrome and fathers with the tremor/ataxia symptom (difficulty walking). This story particularly highlights women, who are often the carriers in question and also the genetic researchers achieving scientific breakthroughs"-- |
| Beschreibung: | 1 online resource (x, 269 pages) : illustrations |
| Bibliographie: | Includes bibliographical references and index. |
| ISBN: | 9780231552288 0231552289 |
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| 245 | 1 | 4 | |a The carriers : |b what the fragile X gene reveals about family, heredity, and scientific discovery / |c Anne Skomorowsky ; foreword by Randi J. Hagerman. |
| 264 | 1 | |a New York : |b Columbia University Press, |c [2022] | |
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| 504 | |a Includes bibliographical references and index. | ||
| 505 | 0 | |a One damn thing after another -- Fragile X mutations : an overview -- Village of fools : how carriers brought fragile X to the new world, and what happened next -- A classic zebra : fragile X-associated primary ovarian insufficiency (FXPOI) -- The movement disorder that started a movement : fragile X-associated tremor/ataxia syndrome (FXTAS) -- Once more, with feelings : fragile X-associated neuropsychiatric disorders (FXAND) -- What are fragile eggs? : to test or not to test -- Borderlands of the premutation : gray zones, low-normals, and endophenotypes -- Outcomes. | |
| 520 | |a "Fragile X syndrome is a genetic condition that causes a range of neurodevelopmental problems including learning disabilities and cognitive impairment. Boys with the condition are more likely to be born fully affected by it, while women who are seemingly unaffected carriers have an increased risk of giving birth to an affected child. Recent research indicates that Fragile X syndrome is highly unusual in the world of genetic disorders, in that carriers, who were previously thought to show no symptoms at all, are in fact affected in their own ways: into adulthood, they can develop personality and emotional changes, tremors, and difficulty walking. The title characters in The Carriers, then, are the previous generations--mothers and grandparents--of fully affected Fragile X patients. This book aims to tell the stories of how families are affected by this genetic disorder over generations, as well as the initial science that discovered it and the current science that's teaching us how Fragile X is affecting silent carriers in ways that weren't previously recognized. Understanding psychiatric symptoms in premutation carriers is complicated by the fact that many are caring for children with Fragile X syndrome and fathers with the tremor/ataxia symptom (difficulty walking). This story particularly highlights women, who are often the carriers in question and also the genetic researchers achieving scientific breakthroughs"-- |c Provided by publisher. | ||
| 588 | |a Description based on online resource; title from digital title page (viewed on November 28, 2022). | ||
| 650 | 0 | |a Fragile X syndrome. |0 http://id.loc.gov/authorities/subjects/sh85051162 | |
| 650 | 1 | 2 | |a Fragile X Syndrome |x complications |0 https://id.nlm.nih.gov/mesh/D005600Q000150 |
| 650 | 1 | 2 | |a Fragile X Syndrome |x genetics |0 https://id.nlm.nih.gov/mesh/D005600Q000235 |
| 650 | 2 | 2 | |a Genetic Predisposition to Disease |0 https://id.nlm.nih.gov/mesh/D020022 |
| 650 | 2 | 2 | |a Heterozygote |0 https://id.nlm.nih.gov/mesh/D006579 |
| 650 | 2 | 2 | |a Chromosome Fragile Sites |x genetics |0 https://id.nlm.nih.gov/mesh/D043283Q000235 |
| 650 | 2 | |a Fragile X Syndrome |0 https://id.nlm.nih.gov/mesh/D005600 | |
| 650 | 6 | |a Syndrome de l'X fragile. | |
| 650 | 7 | |a MEDICAL / Psychiatry / General |2 bisacsh | |
| 650 | 7 | |a Fragile X syndrome |2 fast | |
| 700 | 1 | |a Hagerman, Randi Jenssen, |d 1949- |e writer of foreword. |0 http://id.loc.gov/authorities/names/n83166512 | |
| 776 | 0 | 8 | |i Print version: |a Skomorowsky, Anne. |t Carriers |d New York : Columbia University Press, [2022] |z 9780231197663 |w (DLC) 2021034141 |
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| author | Skomorowsky, Anne |
| author_GND | http://id.loc.gov/authorities/names/n2021182130 http://id.loc.gov/authorities/names/n83166512 |
| author_facet | Skomorowsky, Anne |
| author_role | aut |
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| callnumber-first | R - Medicine |
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| callnumber-raw | RJ506.F73 S56 2022 |
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| contents | One damn thing after another -- Fragile X mutations : an overview -- Village of fools : how carriers brought fragile X to the new world, and what happened next -- A classic zebra : fragile X-associated primary ovarian insufficiency (FXPOI) -- The movement disorder that started a movement : fragile X-associated tremor/ataxia syndrome (FXTAS) -- Once more, with feelings : fragile X-associated neuropsychiatric disorders (FXAND) -- What are fragile eggs? : to test or not to test -- Borderlands of the premutation : gray zones, low-normals, and endophenotypes -- Outcomes. |
| ctrlnum | (OCoLC)1260691740 |
| dewey-full | 618.92/858841 |
| dewey-hundreds | 600 - Technology (Applied sciences) |
| dewey-ones | 618 - Gynecology, obstetrics, pediatrics, geriatrics |
| dewey-raw | 618.92/858841 |
| dewey-search | 618.92/858841 |
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| dewey-tens | 610 - Medicine and health |
| discipline | Medizin |
| format | Electronic eBook |
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| language | English |
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| spelling | Skomorowsky, Anne, author. http://id.loc.gov/authorities/names/n2021182130 The carriers : what the fragile X gene reveals about family, heredity, and scientific discovery / Anne Skomorowsky ; foreword by Randi J. Hagerman. New York : Columbia University Press, [2022] 1 online resource (x, 269 pages) : illustrations text txt rdacontent computer c rdamedia online resource cr rdacarrier Includes bibliographical references and index. One damn thing after another -- Fragile X mutations : an overview -- Village of fools : how carriers brought fragile X to the new world, and what happened next -- A classic zebra : fragile X-associated primary ovarian insufficiency (FXPOI) -- The movement disorder that started a movement : fragile X-associated tremor/ataxia syndrome (FXTAS) -- Once more, with feelings : fragile X-associated neuropsychiatric disorders (FXAND) -- What are fragile eggs? : to test or not to test -- Borderlands of the premutation : gray zones, low-normals, and endophenotypes -- Outcomes. "Fragile X syndrome is a genetic condition that causes a range of neurodevelopmental problems including learning disabilities and cognitive impairment. Boys with the condition are more likely to be born fully affected by it, while women who are seemingly unaffected carriers have an increased risk of giving birth to an affected child. Recent research indicates that Fragile X syndrome is highly unusual in the world of genetic disorders, in that carriers, who were previously thought to show no symptoms at all, are in fact affected in their own ways: into adulthood, they can develop personality and emotional changes, tremors, and difficulty walking. The title characters in The Carriers, then, are the previous generations--mothers and grandparents--of fully affected Fragile X patients. This book aims to tell the stories of how families are affected by this genetic disorder over generations, as well as the initial science that discovered it and the current science that's teaching us how Fragile X is affecting silent carriers in ways that weren't previously recognized. Understanding psychiatric symptoms in premutation carriers is complicated by the fact that many are caring for children with Fragile X syndrome and fathers with the tremor/ataxia symptom (difficulty walking). This story particularly highlights women, who are often the carriers in question and also the genetic researchers achieving scientific breakthroughs"-- Provided by publisher. Description based on online resource; title from digital title page (viewed on November 28, 2022). Fragile X syndrome. http://id.loc.gov/authorities/subjects/sh85051162 Fragile X Syndrome complications https://id.nlm.nih.gov/mesh/D005600Q000150 Fragile X Syndrome genetics https://id.nlm.nih.gov/mesh/D005600Q000235 Genetic Predisposition to Disease https://id.nlm.nih.gov/mesh/D020022 Heterozygote https://id.nlm.nih.gov/mesh/D006579 Chromosome Fragile Sites genetics https://id.nlm.nih.gov/mesh/D043283Q000235 Fragile X Syndrome https://id.nlm.nih.gov/mesh/D005600 Syndrome de l'X fragile. MEDICAL / Psychiatry / General bisacsh Fragile X syndrome fast Hagerman, Randi Jenssen, 1949- writer of foreword. http://id.loc.gov/authorities/names/n83166512 Print version: Skomorowsky, Anne. Carriers New York : Columbia University Press, [2022] 9780231197663 (DLC) 2021034141 FWS01 ZDB-4-EBA FWS_PDA_EBA https://search.ebscohost.com/login.aspx?direct=true&scope=site&db=nlebk&AN=3026998 Volltext |
| spellingShingle | Skomorowsky, Anne The carriers : what the fragile X gene reveals about family, heredity, and scientific discovery / One damn thing after another -- Fragile X mutations : an overview -- Village of fools : how carriers brought fragile X to the new world, and what happened next -- A classic zebra : fragile X-associated primary ovarian insufficiency (FXPOI) -- The movement disorder that started a movement : fragile X-associated tremor/ataxia syndrome (FXTAS) -- Once more, with feelings : fragile X-associated neuropsychiatric disorders (FXAND) -- What are fragile eggs? : to test or not to test -- Borderlands of the premutation : gray zones, low-normals, and endophenotypes -- Outcomes. Fragile X syndrome. http://id.loc.gov/authorities/subjects/sh85051162 Fragile X Syndrome complications https://id.nlm.nih.gov/mesh/D005600Q000150 Fragile X Syndrome genetics https://id.nlm.nih.gov/mesh/D005600Q000235 Genetic Predisposition to Disease https://id.nlm.nih.gov/mesh/D020022 Heterozygote https://id.nlm.nih.gov/mesh/D006579 Chromosome Fragile Sites genetics https://id.nlm.nih.gov/mesh/D043283Q000235 Fragile X Syndrome https://id.nlm.nih.gov/mesh/D005600 Syndrome de l'X fragile. MEDICAL / Psychiatry / General bisacsh Fragile X syndrome fast |
| subject_GND | http://id.loc.gov/authorities/subjects/sh85051162 https://id.nlm.nih.gov/mesh/D005600Q000150 https://id.nlm.nih.gov/mesh/D005600Q000235 https://id.nlm.nih.gov/mesh/D020022 https://id.nlm.nih.gov/mesh/D006579 https://id.nlm.nih.gov/mesh/D043283Q000235 https://id.nlm.nih.gov/mesh/D005600 |
| title | The carriers : what the fragile X gene reveals about family, heredity, and scientific discovery / |
| title_auth | The carriers : what the fragile X gene reveals about family, heredity, and scientific discovery / |
| title_exact_search | The carriers : what the fragile X gene reveals about family, heredity, and scientific discovery / |
| title_full | The carriers : what the fragile X gene reveals about family, heredity, and scientific discovery / Anne Skomorowsky ; foreword by Randi J. Hagerman. |
| title_fullStr | The carriers : what the fragile X gene reveals about family, heredity, and scientific discovery / Anne Skomorowsky ; foreword by Randi J. Hagerman. |
| title_full_unstemmed | The carriers : what the fragile X gene reveals about family, heredity, and scientific discovery / Anne Skomorowsky ; foreword by Randi J. Hagerman. |
| title_short | The carriers : |
| title_sort | carriers what the fragile x gene reveals about family heredity and scientific discovery |
| title_sub | what the fragile X gene reveals about family, heredity, and scientific discovery / |
| topic | Fragile X syndrome. http://id.loc.gov/authorities/subjects/sh85051162 Fragile X Syndrome complications https://id.nlm.nih.gov/mesh/D005600Q000150 Fragile X Syndrome genetics https://id.nlm.nih.gov/mesh/D005600Q000235 Genetic Predisposition to Disease https://id.nlm.nih.gov/mesh/D020022 Heterozygote https://id.nlm.nih.gov/mesh/D006579 Chromosome Fragile Sites genetics https://id.nlm.nih.gov/mesh/D043283Q000235 Fragile X Syndrome https://id.nlm.nih.gov/mesh/D005600 Syndrome de l'X fragile. MEDICAL / Psychiatry / General bisacsh Fragile X syndrome fast |
| topic_facet | Fragile X syndrome. Fragile X Syndrome complications Fragile X Syndrome genetics Genetic Predisposition to Disease Heterozygote Chromosome Fragile Sites genetics Fragile X Syndrome Syndrome de l'X fragile. MEDICAL / Psychiatry / General Fragile X syndrome |
| url | https://search.ebscohost.com/login.aspx?direct=true&scope=site&db=nlebk&AN=3026998 |
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