Atlas of Human Chromosome Heteromorphisms:
Critical to the accurate diagnosis of human illness is the need to distinguish clinical features that fall within the normal range from those that do not. That distinction is often challenging and not infrequently requires considerable experience at the bedside. It is not surprising that accurate cy...
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| Weitere Verfasser: | , |
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| Format: | Elektronisch E-Book |
| Sprache: | English |
| Veröffentlicht: |
Dordrecht
Springer Netherlands
2004
|
| Schlagworte: | |
| Online-Zugang: | UBR01 Volltext |
| Zusammenfassung: | Critical to the accurate diagnosis of human illness is the need to distinguish clinical features that fall within the normal range from those that do not. That distinction is often challenging and not infrequently requires considerable experience at the bedside. It is not surprising that accurate cytogenetic diagnosis is also often a challenge, especially when chromosome study reveals morphologic findings that raise the question of normality. Given the realization that modern human cytogenetics is just over five decades old, it is noteworthy that thorough documentation of normal chromosome var- tion has not yet been accomplished. One key diagnostic consequence of the inability to distinguish a "normal" variation in chromosome structure from a pathologic change is a missed or inaccurate diagnosis. Clinical cytogeneticists have not, however, been idle. Rather, progressive biotechnological advances coupled with virtual completion of the human genome project have yielded increasingly better microscopic resolution of chromosome structure. Witness the progress from the early short condensed chromosomes to the later visualization of chromosomes through banding techniques, hi- resolution analysis in prophase, and more recently to analysis by fluorescent in situ hybridization (FISH) |
| Beschreibung: | 1 Online-Ressource (XX, 279 p) |
| ISBN: | 9789401704335 |
| DOI: | 10.1007/978-94-017-0433-5 |
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| 520 | |a Critical to the accurate diagnosis of human illness is the need to distinguish clinical features that fall within the normal range from those that do not. That distinction is often challenging and not infrequently requires considerable experience at the bedside. It is not surprising that accurate cytogenetic diagnosis is also often a challenge, especially when chromosome study reveals morphologic findings that raise the question of normality. Given the realization that modern human cytogenetics is just over five decades old, it is noteworthy that thorough documentation of normal chromosome var- tion has not yet been accomplished. One key diagnostic consequence of the inability to distinguish a "normal" variation in chromosome structure from a pathologic change is a missed or inaccurate diagnosis. Clinical cytogeneticists have not, however, been idle. Rather, progressive biotechnological advances coupled with virtual completion of the human genome project have yielded increasingly better microscopic resolution of chromosome structure. Witness the progress from the early short condensed chromosomes to the later visualization of chromosomes through banding techniques, hi- resolution analysis in prophase, and more recently to analysis by fluorescent in situ hybridization (FISH) | ||
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Datensatz im Suchindex
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| author2 | Wyandt, Herman E. Tonk, Vijay S. |
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| author_facet | Wyandt, Herman E. Tonk, Vijay S. |
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| dewey-full | 611.01816 599.935 |
| dewey-hundreds | 600 - Technology (Applied sciences) 500 - Natural sciences and mathematics |
| dewey-ones | 611 - Human anatomy, cytology, histology 599 - Mammalia |
| dewey-raw | 611.01816 599.935 |
| dewey-search | 611.01816 599.935 |
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| dewey-tens | 610 - Medicine and health 590 - Animals |
| discipline | Biologie Medizin |
| doi_str_mv | 10.1007/978-94-017-0433-5 |
| format | Electronic eBook |
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| indexdate | 2024-07-10T08:36:35Z |
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| isbn | 9789401704335 |
| language | English |
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| spelling | Atlas of Human Chromosome Heteromorphisms edited by Herman E. Wyandt, Vijay S. Tonk Dordrecht Springer Netherlands 2004 1 Online-Ressource (XX, 279 p) txt rdacontent c rdamedia cr rdacarrier Critical to the accurate diagnosis of human illness is the need to distinguish clinical features that fall within the normal range from those that do not. That distinction is often challenging and not infrequently requires considerable experience at the bedside. It is not surprising that accurate cytogenetic diagnosis is also often a challenge, especially when chromosome study reveals morphologic findings that raise the question of normality. Given the realization that modern human cytogenetics is just over five decades old, it is noteworthy that thorough documentation of normal chromosome var- tion has not yet been accomplished. One key diagnostic consequence of the inability to distinguish a "normal" variation in chromosome structure from a pathologic change is a missed or inaccurate diagnosis. Clinical cytogeneticists have not, however, been idle. Rather, progressive biotechnological advances coupled with virtual completion of the human genome project have yielded increasingly better microscopic resolution of chromosome structure. Witness the progress from the early short condensed chromosomes to the later visualization of chromosomes through banding techniques, hi- resolution analysis in prophase, and more recently to analysis by fluorescent in situ hybridization (FISH) Human Genetics Laboratory Medicine Pediatrics Pathology Human genetics Medical laboratories Chromosomenpolymorphismus (DE-588)4147989-0 gnd rswk-swf Atlas (DE-588)4143303-8 gnd rswk-swf Chromosomenpolymorphismus (DE-588)4147989-0 s Atlas (DE-588)4143303-8 s 1\p DE-604 Wyandt, Herman E. edt Tonk, Vijay S. edt Erscheint auch als Druck-Ausgabe 9789048162963 Erscheint auch als Druck-Ausgabe 9781402013034 Erscheint auch als Druck-Ausgabe 9789401704342 https://doi.org/10.1007/978-94-017-0433-5 Verlag URL des Erstveröffentlichers Volltext 1\p cgwrk 20201028 DE-101 https://d-nb.info/provenance/plan#cgwrk |
| spellingShingle | Atlas of Human Chromosome Heteromorphisms Human Genetics Laboratory Medicine Pediatrics Pathology Human genetics Medical laboratories Chromosomenpolymorphismus (DE-588)4147989-0 gnd Atlas (DE-588)4143303-8 gnd |
| subject_GND | (DE-588)4147989-0 (DE-588)4143303-8 |
| title | Atlas of Human Chromosome Heteromorphisms |
| title_auth | Atlas of Human Chromosome Heteromorphisms |
| title_exact_search | Atlas of Human Chromosome Heteromorphisms |
| title_full | Atlas of Human Chromosome Heteromorphisms edited by Herman E. Wyandt, Vijay S. Tonk |
| title_fullStr | Atlas of Human Chromosome Heteromorphisms edited by Herman E. Wyandt, Vijay S. Tonk |
| title_full_unstemmed | Atlas of Human Chromosome Heteromorphisms edited by Herman E. Wyandt, Vijay S. Tonk |
| title_short | Atlas of Human Chromosome Heteromorphisms |
| title_sort | atlas of human chromosome heteromorphisms |
| topic | Human Genetics Laboratory Medicine Pediatrics Pathology Human genetics Medical laboratories Chromosomenpolymorphismus (DE-588)4147989-0 gnd Atlas (DE-588)4143303-8 gnd |
| topic_facet | Human Genetics Laboratory Medicine Pediatrics Pathology Human genetics Medical laboratories Chromosomenpolymorphismus Atlas |
| url | https://doi.org/10.1007/978-94-017-0433-5 |
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