ISBN: 9781402013034

Clinical cytogenetics is a rapidly changing field. Added to the classical heteromorphic regions is a growing class of new recognized euchromatic variants. Newer molecular and FISH technol… Meer...

Clinical cytogenetics is a rapidly changing field. Added to the classical heteromorphic regions is a growing class of new recognized euchromatic variants. Newer molecular and FISH technologies can help resolve the nature of unusual variants. Clinical cytogenetics is a rapidly changing field. Today's tests are pressed into application almost before the overworked clinician or laboratory director may be aware they are available. Distinction between a normal variant and a clinically significant mutation is a crucial part of any test. Although chromosome banding techniques have been in practical use for more than 30 years, interpretation of striking variations in size and staining of known heteromorphic regions on human chromosomes remains problematic. Added to the classical heteromorphic regions is a growing class of new recognized euchromatic variants. Newer molecular and FISH technologies can help resolve the nature of unusual variants. At the same time they can be the source of new variants. For that reason there is a short section on FISH variants. This book is not a panacea. However, it does provide a comprehensive view of human chromosome heteromorphisms, their applications, and their often speculated roles in aberrant chromosome behaviour relating to abnormal phenotype, pregnancy loss and cancer. More significantly, the book is a pictorial atlas for common and unusual heteromorphisms and euchromatic variants as they have been studied both by classical banding techniques and by newer molecular or FISH technologies. To facilitate its use as a laboratory or clinical reference, plates in a pictorial section are organized by chromosome number with the most recent ISCN ideogram, summary and extensive list of references for each chromosome. A final pictorial section is devoted to FISH variants. The book is a work in progress, with submission of new variants encouraged for future editions. Neu, Festpreisangebot, [LT: FixedPrice], EAN: 9781402013034, UPC: 9781402013034, Item Length: 24.9 cm, Publication Year: 2003, Type: Textbook, Format: Hardcover, Language: English, Publication Name: Atlas of Human Chromosome Heteromorphisms, Item Height: 234mm, Item Width: 156mm, Subject: Medicine, Biology, Item Weight: 1320g, Number of Pages: 279 Pages, Springer-Verlag NY Inc.<

2003, ISBN: 1402013035

[EAN: 9781402013034], Neubuch, [SC: 0.0], [PU: Springer Netherlands], GENETIK / HUMANGENETIK; MEDIZIN DIAGNOSTIK, LABORMEDIZIN; KINDERARZT; KINDERHEILKUNDE; PÄDIATRIE; PATHOLOGIE (DES MEN… Meer...

[EAN: 9781402013034], Neubuch, [SC: 0.0], [PU: Springer Netherlands], GENETIK / HUMANGENETIK; MEDIZIN DIAGNOSTIK, LABORMEDIZIN; KINDERARZT; KINDERHEILKUNDE; PÄDIATRIE; PATHOLOGIE (DES MENSCHEN); CHROMOSOM; FISH; FLUORESZENZINSITU-HYBRIDISIERUNG; LABORATORY; EVOLUTION; PHENOTYPE, Druck auf Anfrage Neuware -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). 300 pp. Englisch, Books<

2003, ISBN: 1402013035

2004 Gebundene Ausgabe Genetik / Humangenetik, Humangenetik, Medizin / Diagnostik, Labormedizin, Kinderarzt, Kinderheilkunde, Pädiatrie, Pathologie (des Menschen), Genetik, Medizin, Pat… Meer...

2004 Gebundene Ausgabe Genetik / Humangenetik, Humangenetik, Medizin / Diagnostik, Labormedizin, Kinderarzt, Kinderheilkunde, Pädiatrie, Pathologie (des Menschen), Genetik, Medizin, Pathologie, Fish; Chromosom; Fluoreszenz in situ-Hybridisierung; Laboratory; evolution; phenotype, mit Schutzumschlag 11, [PU:Springer Netherlands; Springer Netherland]<

2003, ISBN: 1402013035

2004 Gebundene Ausgabe Genetik / Humangenetik, Humangenetik, Medizin / Diagnostik, Labormedizin, Kinderarzt, Kinderheilkunde, Pädiatrie, Pathologie (des Menschen), Genetik, Medizin, Pat… Meer...

2004 Gebundene Ausgabe Genetik / Humangenetik, Humangenetik, Medizin / Diagnostik, Labormedizin, Kinderarzt, Kinderheilkunde, Pädiatrie, Pathologie (des Menschen), Genetik, Medizin, Pathologie, Chromosom; Fish; Fluoreszenzinsitu-Hybridisierung; Laboratory; evolution; phenotype, mit Schutzumschlag 11, [PU:Springer Netherlands; Springer Netherland]<

2003, ISBN: 9781402013034

Springer, 2003-12-31. Hardcover. New. New. In shrink wrap. Looks like an interesting title!, Springer, 2003-12-31, 6