The Carriers: What the Fragile X Gene Reveals About Family, Heredity, and Scientific Discovery
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 o...
Gespeichert in:
| 1. Verfasser: | |
|---|---|
| Format: | Elektronisch E-Book |
| Sprache: | English |
| Veröffentlicht: |
New York, NY
Columbia University Press
[2022]
|
| Schlagworte: | |
| Online-Zugang: | FHA01 Volltext |
| Zusammenfassung: | 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 the mutation but also experience related conditions themselves. In such cases, carriers can have tremors, infertility, and psychiatric disorders that complicate raising children with fragile X syndrome-and all too often, they suffer in silence.The Carriers investigates this common but still little-known genetic condition and its life-altering consequences. Anne Skomorowsky reveals how this disorder afflicts families across generations, telling the stories of the mothers and grandparents of fragile X patients and considering how genes interact with family dynamics. She interweaves the personal narratives and family histories of the people affected by fragile X disorders with clear and accessible explanations of the science behind them. Skomorowsky unpacks the latest research on the fragile X mutation and explores the history of its discovery. She highlights the roles of women as carriers, caregivers, and researchers who have made astonishing scientific breakthroughs over the last three decades.The Carriers is an essential book for fragile X families, including those just learning they are carriers, and for all readers interested in the complexities of heredity, the ethical dilemmas of genetic medicine, and the relationship between genes and personality |
| Beschreibung: | Description based on online resource; title from PDF title page (publisher's Web site, viewed 29. Jun 2022) |
| Beschreibung: | 1 online resource 10 figures/tables |
| ISBN: | 9780231552288 |
| DOI: | 10.7312/skom19766 |
Internformat
MARC
| LEADER | 00000nmm a2200000zc 4500 | ||
|---|---|---|---|
| 001 | BV048363812 | ||
| 003 | DE-604 | ||
| 005 | 00000000000000.0 | ||
| 007 | cr|uuu---uuuuu | ||
| 008 | 220718s2022 |||| o||u| ||||||eng d | ||
| 020 | |a 9780231552288 |9 978-0-231-55228-8 | ||
| 024 | 7 | |a 10.7312/skom19766 |2 doi | |
| 035 | |a (ZDB-23-DGG)9780231552288 | ||
| 035 | |a (OCoLC)1337130897 | ||
| 035 | |a (DE-599)BVBBV048363812 | ||
| 040 | |a DE-604 |b ger |e rda | ||
| 041 | 0 | |a eng | |
| 049 | |a DE-Aug4 | ||
| 100 | 1 | |a Skomorowsky, Anne |e Verfasser |4 aut | |
| 245 | 1 | 0 | |a The Carriers |b What the Fragile X Gene Reveals About Family, Heredity, and Scientific Discovery |c Anne Skomorowsky |
| 264 | 1 | |a New York, NY |b Columbia University Press |c [2022] | |
| 264 | 4 | |c © 2022 | |
| 300 | |a 1 online resource |b 10 figures/tables | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b c |2 rdamedia | ||
| 338 | |b cr |2 rdacarrier | ||
| 500 | |a Description based on online resource; title from PDF title page (publisher's Web site, viewed 29. Jun 2022) | ||
| 520 | |a 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 the mutation but also experience related conditions themselves. In such cases, carriers can have tremors, infertility, and psychiatric disorders that complicate raising children with fragile X syndrome-and all too often, they suffer in silence.The Carriers investigates this common but still little-known genetic condition and its life-altering consequences. Anne Skomorowsky reveals how this disorder afflicts families across generations, telling the stories of the mothers and grandparents of fragile X patients and considering how genes interact with family dynamics. She interweaves the personal narratives and family histories of the people affected by fragile X disorders with clear and accessible explanations of the science behind them. Skomorowsky unpacks the latest research on the fragile X mutation and explores the history of its discovery. She highlights the roles of women as carriers, caregivers, and researchers who have made astonishing scientific breakthroughs over the last three decades.The Carriers is an essential book for fragile X families, including those just learning they are carriers, and for all readers interested in the complexities of heredity, the ethical dilemmas of genetic medicine, and the relationship between genes and personality | ||
| 546 | |a In English | ||
| 650 | 7 | |a MEDICAL / Psychiatry / General |2 bisacsh | |
| 856 | 4 | 0 | |u https://doi.org/10.7312/skom19766 |x Verlag |z URL des Erstveröffentlichers |3 Volltext |
| 912 | |a ZDB-23-DGG | ||
| 999 | |a oai:aleph.bib-bvb.de:BVB01-033742951 | ||
| 966 | e | |u https://doi.org/10.7312/skom19766 |l FHA01 |p ZDB-23-DGG |q FHA_PDA_DGG |x Verlag |3 Volltext | |
Datensatz im Suchindex
| _version_ | 1804184229482856448 |
|---|---|
| adam_txt | |
| any_adam_object | |
| any_adam_object_boolean | |
| author | Skomorowsky, Anne |
| author_facet | Skomorowsky, Anne |
| author_role | aut |
| author_sort | Skomorowsky, Anne |
| author_variant | a s as |
| building | Verbundindex |
| bvnumber | BV048363812 |
| collection | ZDB-23-DGG |
| ctrlnum | (ZDB-23-DGG)9780231552288 (OCoLC)1337130897 (DE-599)BVBBV048363812 |
| doi_str_mv | 10.7312/skom19766 |
| format | Electronic eBook |
| fullrecord | <?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>02945nmm a2200373zc 4500</leader><controlfield tag="001">BV048363812</controlfield><controlfield tag="003">DE-604</controlfield><controlfield tag="005">00000000000000.0</controlfield><controlfield tag="007">cr|uuu---uuuuu</controlfield><controlfield tag="008">220718s2022 |||| o||u| ||||||eng d</controlfield><datafield tag="020" ind1=" " ind2=" "><subfield code="a">9780231552288</subfield><subfield code="9">978-0-231-55228-8</subfield></datafield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.7312/skom19766</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(ZDB-23-DGG)9780231552288</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(OCoLC)1337130897</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)BVBBV048363812</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-604</subfield><subfield code="b">ger</subfield><subfield code="e">rda</subfield></datafield><datafield tag="041" ind1="0" ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="049" ind1=" " ind2=" "><subfield code="a">DE-Aug4</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Skomorowsky, Anne</subfield><subfield code="e">Verfasser</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">The Carriers</subfield><subfield code="b">What the Fragile X Gene Reveals About Family, Heredity, and Scientific Discovery</subfield><subfield code="c">Anne Skomorowsky</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="a">New York, NY</subfield><subfield code="b">Columbia University Press</subfield><subfield code="c">[2022]</subfield></datafield><datafield tag="264" ind1=" " ind2="4"><subfield code="c">© 2022</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">1 online resource</subfield><subfield code="b">10 figures/tables</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="500" ind1=" " ind2=" "><subfield code="a">Description based on online resource; title from PDF title page (publisher's Web site, viewed 29. Jun 2022)</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">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 the mutation but also experience related conditions themselves. In such cases, carriers can have tremors, infertility, and psychiatric disorders that complicate raising children with fragile X syndrome-and all too often, they suffer in silence.The Carriers investigates this common but still little-known genetic condition and its life-altering consequences. Anne Skomorowsky reveals how this disorder afflicts families across generations, telling the stories of the mothers and grandparents of fragile X patients and considering how genes interact with family dynamics. She interweaves the personal narratives and family histories of the people affected by fragile X disorders with clear and accessible explanations of the science behind them. Skomorowsky unpacks the latest research on the fragile X mutation and explores the history of its discovery. She highlights the roles of women as carriers, caregivers, and researchers who have made astonishing scientific breakthroughs over the last three decades.The Carriers is an essential book for fragile X families, including those just learning they are carriers, and for all readers interested in the complexities of heredity, the ethical dilemmas of genetic medicine, and the relationship between genes and personality</subfield></datafield><datafield tag="546" ind1=" " ind2=" "><subfield code="a">In English</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">MEDICAL / Psychiatry / General</subfield><subfield code="2">bisacsh</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.7312/skom19766</subfield><subfield code="x">Verlag</subfield><subfield code="z">URL des Erstveröffentlichers</subfield><subfield code="3">Volltext</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">ZDB-23-DGG</subfield></datafield><datafield tag="999" ind1=" " ind2=" "><subfield code="a">oai:aleph.bib-bvb.de:BVB01-033742951</subfield></datafield><datafield tag="966" ind1="e" ind2=" "><subfield code="u">https://doi.org/10.7312/skom19766</subfield><subfield code="l">FHA01</subfield><subfield code="p">ZDB-23-DGG</subfield><subfield code="q">FHA_PDA_DGG</subfield><subfield code="x">Verlag</subfield><subfield code="3">Volltext</subfield></datafield></record></collection> |
| id | DE-604.BV048363812 |
| illustrated | Not Illustrated |
| index_date | 2024-07-03T20:15:14Z |
| indexdate | 2024-07-10T09:36:01Z |
| institution | BVB |
| isbn | 9780231552288 |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-033742951 |
| oclc_num | 1337130897 |
| open_access_boolean | |
| owner | DE-Aug4 |
| owner_facet | DE-Aug4 |
| physical | 1 online resource 10 figures/tables |
| psigel | ZDB-23-DGG ZDB-23-DGG FHA_PDA_DGG |
| publishDate | 2022 |
| publishDateSearch | 2022 |
| publishDateSort | 2022 |
| publisher | Columbia University Press |
| record_format | marc |
| spelling | Skomorowsky, Anne Verfasser aut The Carriers What the Fragile X Gene Reveals About Family, Heredity, and Scientific Discovery Anne Skomorowsky New York, NY Columbia University Press [2022] © 2022 1 online resource 10 figures/tables txt rdacontent c rdamedia cr rdacarrier Description based on online resource; title from PDF title page (publisher's Web site, viewed 29. Jun 2022) 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 the mutation but also experience related conditions themselves. In such cases, carriers can have tremors, infertility, and psychiatric disorders that complicate raising children with fragile X syndrome-and all too often, they suffer in silence.The Carriers investigates this common but still little-known genetic condition and its life-altering consequences. Anne Skomorowsky reveals how this disorder afflicts families across generations, telling the stories of the mothers and grandparents of fragile X patients and considering how genes interact with family dynamics. She interweaves the personal narratives and family histories of the people affected by fragile X disorders with clear and accessible explanations of the science behind them. Skomorowsky unpacks the latest research on the fragile X mutation and explores the history of its discovery. She highlights the roles of women as carriers, caregivers, and researchers who have made astonishing scientific breakthroughs over the last three decades.The Carriers is an essential book for fragile X families, including those just learning they are carriers, and for all readers interested in the complexities of heredity, the ethical dilemmas of genetic medicine, and the relationship between genes and personality In English MEDICAL / Psychiatry / General bisacsh https://doi.org/10.7312/skom19766 Verlag URL des Erstveröffentlichers Volltext |
| spellingShingle | Skomorowsky, Anne The Carriers What the Fragile X Gene Reveals About Family, Heredity, and Scientific Discovery MEDICAL / Psychiatry / General bisacsh |
| 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_exact_search_txtP | 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 |
| title_fullStr | The Carriers What the Fragile X Gene Reveals About Family, Heredity, and Scientific Discovery Anne Skomorowsky |
| title_full_unstemmed | The Carriers What the Fragile X Gene Reveals About Family, Heredity, and Scientific Discovery Anne Skomorowsky |
| title_short | The Carriers |
| title_sort | the 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 | MEDICAL / Psychiatry / General bisacsh |
| topic_facet | MEDICAL / Psychiatry / General |
| url | https://doi.org/10.7312/skom19766 |
| work_keys_str_mv | AT skomorowskyanne thecarrierswhatthefragilexgenerevealsaboutfamilyheredityandscientificdiscovery |