Handbook of chromosomal syndromes / G. Shashidhar Pai, Raymond C. Lewandowski, Digamber S. Borgaondar.

Format:

Book

Author/Creator:

Pai, G. Shashidhar.

Contributor:

Lewandowski, Raymond C.

Borgaonkar, Digamber S.

Language:

English

Subjects (All):

Human chromosome abnormalities--Handbooks, manuals, etc.

Human chromosome abnormalities.

Chromosome Aberrations.

Medical Subjects:

Chromosome Aberrations.

Genre:

Handbooks and manuals.

Physical Description:

xiii, 361 pages : illustrations ; 26 cm

Place of Publication:

New York : J. Wiley, [2003]

Summary:

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. Practicing 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.

Contents:

Chromosome 1p partial trisomy 2

Chromosome 1p partial monosomy 4

Chromosome 1q partial trisomy 8

Chromosome 1q partial monosomy 10

Ring Chromosome 1 14

Chromosome 2p partial trisomy 16

Chromosome 2p partial monosomy 20

Chromosome 2q partial trisomy 22

Chromosome 2q partial monosomy 26

Ring Chromosome 2 32

Chromosome 3p partial trisomy 34

Chromosome 3p partial monosomy 36

Chromosome 3q partial trisomy 40

Chromosome 3q partial monosomy 44

Ring Chromosome 3 46

Chromosome 4p partial trisomy 48

Chromosome 4p partial monosomy 52

Chromosome 4q partial trisomy 54

Chromosome 4q partial monosomy 56

Ring Chromosome 4 60

Chromosome 5p partial trisomy 62

Chromosome 5p partial monosomy 66

Chromosome 5q partial trisomy 70

Chromosome 5q partial monosomy 74

Ring Chromosome 5 78

Chromosome 6p partial trisomy 80

Chromosome 6p partial monosomy 82

Chromosome 6q partial trisomy 86

Chromosome 6q partial monosomy 88

Ring Chromosome 6 92

Chromosome 7p partial trisomy 96

Chromosome 7p partial monosomy 100

Chromosome 7q partial trisomy 104

Chromosome 7q partial monosomy 108

Ring Chromosome 7 112

Chromosome 8p partial trisomy 116

Chromosome 8p partial monosomy 120

Chromosome 8q partial trisomy 124

Chromosome 8q partial monosomy 126

Ring Chromosome 8 130

Chromosome 9p partial trisomy 132

Chromosome 9p partial monosomy 134

Chromosome 9q partial trisomy 138

Chromosome 9q partial monosomy 142

Ring Chromosome 9 144

Chromosome 10p partial trisomy 148

Chromosome 10p partial monosomy 152

Chromosome 10q partial trisomy 156

Chromosome 10q partial monosomy 160

Ring Chromosome 10 164

Chromosome 11p partial trisomy 166

Chromosome 11p partial monosomy 168

Chromosome 11q partial trisomy 170

Chromosome 11q partial monosomy 172

Ring Chromosome 11 176

Chromosome 12p partial trisomy 178

Chromosome 12p tetrasomy 184

Chromosome 12p partial monosomy 188

Chromosome 12q partial trisomy 190

Chromosome 12q partial monosomy 192

Ring Chromosome 12 194

Chromosome 13 trisomy 198

Chromosome 13q partial monosomy 204

Chromosome 14 trisomy mosaicism 210

Chromosome 14q partial trisomy 214

Chromosome 14q partial monosomy 216

Uniparental disomy 14 220

Chromosome 15 trisomy 224

Chromosome 15q proximal trisomy 228

Chromosome 15q partial monosomy 230

Angelman syndrome 232

Prader-Willi syndrome 236

Ring Chromosome 15 240

Chromosome 16p partial trisomy 244

Chromosome 16q partial trisomy 248

Chromosome 16q partial monosomy 252

Chromosome 17p partial trisomy 256

Chromosome 17p11.2 monosomy 260

Chromosome 17p13 monosomy 264

Chromosome 17q partial trisomy 268

Chromosome 17q partial monosomy 272

Chromosome 18 trisomy 276

Chromosome 18p partial monosomy 280

Chromosome 18q partial monosomy 284

Chromosome 19q partial trisomy 288

Ring Chromosome 19 292

Chromosome 20p partial trisomy 294

Chromosome 20p partial monosomy 298

Ring Chromosome 20 302

Chromosome 21 trisomy 304

Chromosome 21q complete monosomy/partial monosomy 308

Ring Chromosome 21 312

Chromosome 22 trisomy 316

Chromosome 22pter to q11 trisomy/tetrasomy 320

Chromosome 22q proximal monosomy 322

Chromosome 22q distal monosomy 326

Ring Chromosome 22 330

Chromosome 47,XXY and 48,XXYY syndrome 334

Chromosome 49,XXXXX syndrome 338

Chromosome 49,XXXXY syndrome 342

Chromosome 47,XYY and 48,XYYY 344

Monosomy X syndrome 348

Tetraploidy and Tetraploid/Diploid Mixoploidy 354

Triploidy and Diploid/Triploid Mixoploidy 358.

Notes:

Includes bibliographical references.

ISBN:

047137217X

OCLC:

50149660