Atlas of Human Chromosome Heteromorphisms

Front Cover
H.E. Wyandt, Vijay S. Tonk
Springer Science & Business Media, Dec 31, 2003 - Medical - 279 pages
0 Reviews
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).
 

What people are saying - Write a review

We haven't found any reviews in the usual places.

Contents

Methods of Studying Human Chromosomes
11
Normal Population Studies H Wyandt and V Tonk
33
Heteromorphisms in Clinical Populations
44
Technical Variables and the Use
63
Euchromatic Variants S Jalal and R Ketterling
75
FISH Technologies H Wyandt and V Tonk
87
Molecular Dissection of Heteromorphic
97
Evolution of Human Alpha Satellite Sequences
107
Plates 1517
159
Plate 20
169
Plates 2229
175
Plate 30
191
Plates 31 32
193
Plates 3740
206
Plates 48 49
223
Plate 54
239

Organization of Part II
129
Plates 9 10
143
Plate 11
149
Plates 1214
153

Other editions - View all

Common terms and phrases

Bibliographic information