Atlas of Human Chromosome Heteromorphisms

H.E. Wyandt, Vijay S. Tonk (Herausgeber)

Buch | Softcover

279 Seiten

2010 | Softcover reprint of hardcover 1st ed. 2004
Springer (Verlag)
978-90-481-6296-3 (ISBN)

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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).

1. Introduction.- 2. Methods of Studying Human Chromosomes and Nomenclature.- 3. Normal Population Studies.- 4. Heteromorphisms in Clinical Populations.- 5. Technical Variables and the Use of Heteromorphisms in the Study of Human Chromosomes. A: Paternity Testing. B: Origin of Chromosome Abnormalities.- 6. Euchromatic Variants.- 7. FISH Technologies.- 8. Molecular Dissection of Heteromorphic Regions.- 9. Evolution of Human Alpha Satellite Sequences Comprising Variant Centromeric Chromosome Regions.- II: Plates.

Zusatzinfo	XX, 279 p.
Verlagsort	Dordrecht
Sprache	englisch
Maße	160 x 240 mm
Themenwelt	Medizin / Pharmazie ► Medizinische Fachgebiete ► Laboratoriumsmedizin
	Medizin / Pharmazie ► Medizinische Fachgebiete ► Pädiatrie
	Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik
	Studium ► 2. Studienabschnitt (Klinik) ► Pathologie
ISBN-10	90-481-6296-3 / 9048162963
ISBN-13	978-90-481-6296-3 / 9789048162963
Zustand	Neuware