Catalogue


Handbook of chromosomal syndromes /
G. Shashidhar Pai, Raymond C. Lewandowski, Digamber S. Borgaondar.
imprint
New York : Wiley-Liss, c2003.
description
xiii, 361 p. : ill.
ISBN
047137217X (cloth : alk. paper)
format(s)
Book
Holdings
More Details
imprint
New York : Wiley-Liss, c2003.
isbn
047137217X (cloth : alk. paper)
catalogue key
4749396
 
Includes bibliographical references and index.
A Look Inside
About the Author
Author Affiliation
G. Shashidhar Pai, M.D.: Department of Pediatrics, Medical University of South Carolina, Charleston Raymond C. Lewandowski, Jr., M.D. and Raymond C. Lewandowski, Jr., M.D., P.A. Corpus Christi, Texas Digamber S. Borgaonkar, Ph.D.: Retired Director, Cytogenetics Laboratory, Christiana Care Health Systems, Newark, Delaware; Laboratory of Neurogenetics, National Institute of Aging, National Institutes of Health, Bethesda, Maryland
Reviews
Review Quotes
"...includes an extensive collection of references and clinical photographs." ( American Journal of Medical Genetics , January 1, 2004)
This item was reviewed in:
Doody's Reviews, February 2005
To find out how to look for other reviews, please see our guides to finding book reviews in the Sciences or Social Sciences and Humanities.
Summaries
Long Description
In the past, medical researchers and practicing clinicians have lacked a single, comprehensive resource on chromosome disorders, the cause of a wide variety of growth abnormalities and miscarriages. As new syndromes are being defined and known syndromes better described, patients with chromosomal abnormalities and their families are making greater demands on professionals for more extensive information. Consisting of more than 200 chromosomal aneuploidy syndromes, the Handbook of Chromosomal Syndromes is the most up-to-date reference to focus exclusively on clinical syndromes due to chromosomal abnormalities.This fully illustrated guide is ideal for clinicians to use as a ready reference and for treatment and counseling of families and expectant parents facing abnormal prenatal tests. For each syndrome, this easy-to-use guide offers a complete description of clinical presentation, with illustrations, as well as information on behavioral aspects, life expectancy, diagnosis, and cytogenetics. Features of the text include:A section devoted to the nomenclature of chromosome abnormalitiesPictorial material suitable to be shown to patient populationsDescriptions of the phenotype in tabular and text form for quick and easy referenceIdeograms for each entryA list of key referencesPracticing clinicians-including primary care providers, pediatricians, and obstetricians-genetic counselors, researchers, and clinical and medical geneticists will find the Handbook of Chromosomal Syndromes to be an indispensable resource.
Main Description
Consisting of more than 200 chromosomal aneuploidy syndromes, the Handbook Chromosomal Syndromes is the up-to-date reference to focus exclusively on clinical syndromes due to chromosomal abnormalities. For each syndrome, easy-to-use guide offers a complete description of clinical presentation, with illustrations, as well as information on behavioral aspects, life expectancy, diagnosis, and cytogenetics. Features of the text include: - A section devoted to the nomenclature of chromosome abnormalities - Pictorial material suitable to be shown to patient populations - Descriptions of the phenotype in tabular and text form for quick and easy reference - Ideograms for each entry - A list of key references
Table of Contents
Prefacep. ix
Chromosome 1p partial trisomyp. 2
Chromosome 1p partial monosomyp. 4
Chromosome 1q partial trisomyp. 8
Chromosome 1q partial monosomyp. 10
Ring Chromosome 1p. 14
Chromosome 2p partial trisomyp. 16
Chromosome 2p partial monosomyp. 20
Chromosome 2q partial trisomyp. 22
Chromosome 2q partial monosomyp. 26
Ring Chromosome 2p. 32
Chromosome 3p partial trisomyp. 34
Chromosome 3p partial monosomyp. 36
Chromosome 3q partial trisomyp. 40
Chromosome 3q partial monosomyp. 44
Ring Chromosome 3p. 46
Chromosome 4p partial trisomyp. 48
Chromosome 4p partial monosomyp. 52
Chromosome 4q partial trisomyp. 54
Chromosome 4q partial monosomyp. 56
Ring Chromosome 4p. 60
Chromosome 5p partial trisomyp. 62
Chromosome 5p partial monosomyp. 66
Chromosome 5q partial trisomyp. 70
Chromosome 5q partial monosomyp. 74
Ring Chromosome 5p. 78
Chromosome 6p partial trisomyp. 80
Chromosome 6p partial monosomyp. 82
Chromosome 6q partial trisomyp. 86
Chromosome 6q partial monosomyp. 88
Ring Chromosome 6p. 92
Chromosome 7p partial trisomyp. 96
Chromosome 7p partial monosomyp. 100
Chromosome 7q partial trisomyp. 104
Chromosome 7q partial monosomyp. 108
Ring Chromosome 7p. 112
Chromosome 8p partial trisomyp. 116
Chromosome 8p partial monosomyp. 120
Chromosome 8q partial trisomyp. 124
Chromosome 8q partial monosomyp. 126
Ring Chromosome 8p. 130
Chromosome 9p partial trisomyp. 132
Chromosome 9p partial monosomyp. 134
Chromosome 9q partial trisomyp. 138
Chromosome 9q partial monosomyp. 142
Ring Chromosome 9p. 144
Chromosome 10p partial trisomyp. 148
Chromosome 10p partial monosomyp. 152
Chromosome 10q partial trisomyp. 156
Chromosome 10q partial monosomyp. 160
Ring Chromosome 10p. 164
Chromosome 11p partial trisomyp. 166
Chromosome 11p partial monosomyp. 168
Chromosome 11q partial trisomyp. 170
Chromosome 11q partial monosomyp. 172
Ring Chromosome 11p. 176
Chromosome 12p partial trisomyp. 178
Chromosome 12p tetrasomyp. 184
Chromosome 12p partial monosomyp. 188
Chromosome 12q partial trisomyp. 190
Chromosome 12q partial monosomyp. 192
Ring Chromosome 12p. 194
Chromosome 13 trisomyp. 198
Chromosome 13q partial monosomyp. 204
Chromosome 14 trisomy mosaicismp. 210
Chromosome 14q partial trisomyp. 214
Chromosome 14q partial monosomyp. 216
Uniparental disomy 14p. 220
Chromosome 15 trisomyp. 224
Chromosome 15q proximal trisomyp. 228
Chromosome 15q partial monosomyp. 230
Angelman syndromep. 232
Prader-Willi syndromep. 236
Ring Chromosome 15p. 240
Chromosome 16p partial trisomyp. 244
Chromosome 16q partial trisomyp. 248
Chromosome 16q partial monosomyp. 252
Chromosome 17p partial trisomyp. 256
Chromosome 17p11.2 monosomyp. 260
Chromosome 17p13 monosomyp. 264
Chromosome 17q partial trisomyp. 268
Chromosome 17q partial monosomyp. 272
Chromosome 18 trisomyp. 276
Chromosome 18p partial monosomyp. 280
Chromosome 18q partial monosomyp. 284
Chromosome 19q partial trisomyp. 288
Ring Chromosome 19p. 292
Chromosome 20p partial trisomyp. 294
Chromosome 20p partial monosomyp. 298
Ring Chromosome 20p. 302
Chromosome 21 trisomyp. 304
Chromosome 21q complete monosomy/partial monosomyp. 308
Ring Chromosome 21p. 312
Chromosome 22 trisomyp. 316
Chromosome 22pter to q11 trisomy/tetrasomyp. 320
Chromosome 22q proximal monosomyp. 322
Chromosome 22q distal monosomyp. 326
Ring Chromosome 22p. 330
Chromosome 47,XXY and 48,XXYY syndromep. 334
Chromosome 49,XXXXX syndromep. 338
Chromosome 49,XXXXY syndromep. 342
Chromosome 47,XYY and 48,XYYYp. 344
Monosomy X syndromep. 348
Tetraploidy and Tetraploid/Diploid Mixoploidyp. 354
Triploidy and Diploid/Triploid Mixoploidyp. 358
Table of Contents provided by Syndetics. All Rights Reserved.

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