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E-grāmata: Atlas of X-linked Intellectual Disability Syndromes 2nd Revised edition [Oxford Medicine Online E-books]

Roger E. Stevenson (Director, Greenwood Genetic Center, JC Self Research Institute of Human Genetics, Greenwood, SC), Charles E. Schwartz (Director of Research, Greenwood Genetic Center), R. Curtis Rogers (Director of the Greenville Office, Greenwood Genetic Center, Greenwood, SC)

Formāts: 368 pages, 500 illustrations
Izdošanas datums: 05-Oct-2012
Izdevniecība: Oxford University Press Inc
ISBN-13: 9780199811793

Citas grāmatas par šo tēmu:

Oxford Medicine Online E-books
Cena pašlaik nav zināma

Formāts: 368 pages, 500 illustrations
Izdošanas datums: 05-Oct-2012
Izdevniecība: Oxford University Press Inc
ISBN-13: 9780199811793

Citas grāmatas par šo tēmu:

More info about Oxford Medicine Online e-books

Rokasgrāmatas mājas lapa: http://oxfordmedicine.com/view/10.1093/med/9780199811793.001.0001/med-9780199811793

The Atlas of X-Linked Intellectual Disability Syndromes is a comprehensive and up-to-date summary of the clinically distinctive disorders caused by genes on the X chromosome. Clinical and laboratory data on 150 syndromes are presented in a concise and consistent manner. Each syndrome is defined and information is provided on somatic features, growth and development, neurological signs, cognitive performance, imaging and other laboratory findings, and when possible, the nature and localization of the responsible gene. Craniofacial and other somatic findings are extensively illustrated. A differential matrix accompanies each syndrome description to assist the reader in identifying other X-linked syndromes with overlapping features. Individual syndrome entries are supplemented with nineteen appendices that identify syndromes with common features and provide the location or mapping limits and function of the responsible genes.

The authors have extensive experience in the clinical and laboratory delineation of X-linked intellectual disability. They have described new syndromes, regionally mapped disease loci on the X chromosome, and identified the genes responsible for X-linked syndromes.

Foreword

Preface

xiii

Aarskog Syndrome

(3)

Abidi Syndrome

(2)

Adrenoleukodystrophy

(3)

Agenesis Of The Corpus Callosum, X-Linked

(2)

Ahmad Syndrome

(1)

Aicardi Syndrome

(2)

Allan-Herndon-Dudley Syndrome

(3)

Alpha-Thalassemia Intellectual Disability (See Also Atrx-Associated Xlid)

(3)

AP1S2-Associated Xlid

(2)

Apak Ataxia-Spastic Diplegia Syndrome

(2)

Armfield Syndrome

(2)

Arts Syndrome

(2)

ARX-Associated Xlid

(2)

Ataxia-Deafness-Dementia, X-Linked

(2)

Atkin-Flaitz Syndrome

(2)

Atrx-Associated Xlid

(3)

Bergia Cardiomyopathy

(2)

Bertini Syndrome

(2)

Borjeson-Forssman-Lehmann Syndrome

(3)

Branchial Arch Syndrome, X-Linked

(2)

Cantu Syndrome

(1)

Carpenter-Waziri Syndrome (See Also Atrx-Associated Xlid)

(2)

Cerebro-Cerebello-Coloboma Syndrome

(2)

Cerebro-Oculo-Genital Syndrome

(2)

Cerebro-Palato-Cardiac Syndrome (See Also Renpenning Syndrome)

(2)

Charcot-Marie-Tooth Neuropathy, Cowchock Variant

(1)

Charcot-Marie-Tooth Neuropathy, Ionasescu Variant

(1)

Chassaing-Lacombe Chondrodysplasia

(2)

Christian Syndrome

(2)

Christianson Syndrome

(3)

Chudley-Lowry Syndrome (See Also Atrx-Associated Xlid)

(2)

CK Syndrome

(2)

Clark-Baraister Syndrome

(2)

Coffin-Lowry Syndrome

(3)

Cornelia De Lange Syndrome, X-Linked

(3)

Craniofacioskeletal Syndrome

(2)

Creatine Transporter Deficiency

(2)

Duchenne Muscular Dystrophy

(2)

Dyskeratosis Congenita

(2)

Epilepsy-Intellectual Disability In Females (EIDF)

(1)

Fitzsimmons Syndrome

(2)

Flna-Associated Xlid

(2)

Fragile X Syndrome

(2)

Giuffre-Tsukahara Syndrome

(1)

Glycerol Kinase Deficiency

(2)

Golabi-Ito-Hall Syndrome: (See Also Renpenning Syndrome)

(2)

Goldblatt Spastic Paraplegia Syndrome

(1)

Goltz Syndrome

(2)

Graham Anophthalmia Syndrome

(2)

Gustavson Syndrome

101

(2)

Hall Orofacial Syndrome

103

(1)

Hereditary Bullous Dystrophy, X-Linked

104

(2)

Holmes-Gang Syndrome (See Also Atrx-Associated Xlid)

106

(2)

Homfray Seizures-Contractures

108

(1)

Hyde-Forster Syndrome

109

(1)

Hydranencephaly With Abnormal Genitalia (See Also Arx-Associated Xlid)

110

(2)

Hydrocephaly-Cerebellar Agenesis Syndrome

112

(1)

Hydrocephaly-Masa Spectrum

113

(2)

Hypoparathyroidism, X-Linked

115

(1)

Incontinentia Pigmenti

116

(2)

Juberg-Marsidi-Brooks Syndrome

118

(2)

Kang Syndrome

120

(2)

Lenz Microphthalmia Syndrome

122

(3)

Lesch-Nyhan Syndrome

125

(2)

Lissencephaly And Abnormal Genitalia, X-Linked (See Also ARX-Associated Xlid)

127

(2)

Lissencephaly, X-Linked

129

(3)

Lowe Syndrome

132

(2)

Lujan Syndrome

134

(2)

Martin-Probst Syndrome

136

(2)

Mehmo Syndrome

138

(2)

Menkes Syndrome

140

(3)

Midas Syndrome

143

(2)

Miles-Carpenter Syndrome

145

(3)

Mohr-Tranebjaerg Syndrome

148

(2)

Monoamine Oxidase-A Deficiency

150

(1)

Mucopolysaccharidosis IIA

151

(2)

Myotubular Myopathy

153

(2)

N-Alpha-Acetyltransferase Deficiency

155

(2)

Nance-Horan Syndrome

157

(2)

Norrie Disease

159

(2)

Opitz FG Syndrome

161

(3)

Optic Atrophy, X-Linked

164

(2)

Oral-Facial-Digital Syndrome I

166

(2)

Ornithine Transcarbamoylase Deficiency

168

(2)

Otopalatodigital Syndrome I (See Also Flna-Associated Xlid)

170

(2)

Otopalatodigital Syndrome II (See Also Flna-Associated Xlid)

172

(2)

Paine Syndrome

174

(2)

Pallister W Syndrome

176

(2)

Partington Syndrome (See Also ARX-Associated Xlid)

178

(2)

Pelizaeus-Merzbacher Syndrome

180

(2)

Periventricular Nodular Heterotopia (See Also Flna-Associated Xlid)

182

(2)

Pettigrew Syndrome

184

(2)

Phosphoglycerate Kinase Deficiency

186

(1)

Plott Syndrome

187

(1)

Porteous Syndrome (See Also Renpenning Syndrome)

188

(1)

PPM-X

189

(2)

Prieto Syndrome

191

(2)

Proud Syndrome (See Also ARX-Associated Xlid)

193

(2)

Pyruvate Dehydrogenase Deficiency

195

(2)

Renpenning Syndrome

197

(3)

Rett Syndrome

200

(2)

Rett-Like Seizures-Hypotonia

202

(2)

Roifman Syndrome

204

(2)

Say-Meyer Syndrome

206

(2)

Schimke Syndrome

208

(2)

Shashi Syndrome

210

(2)

Shrimpton Syndrome

212

(2)

Simpson-Golabi-Behmel Syndrome

214

(2)

Smith-Fineman-Myers Syndrome

216

(1)

Snyder-Robinson Syndrome

217

(2)

Stocco Dos Santos Syndrome

219

(2)

Stoll Syndrome

221

(2)

Sutherland-Haan Syndrome (See Also Renpenning Syndrome)

223

(2)

Tarp Syndrome

225

(2)

Telecanthus-Hypospadias Syndrome

227

(2)

Turner Xlid (See Also AP1S2-Associated Xlid)

229

(2)

Urban Syndrome

231

(2)

Vacterl-Hydrocephalus Syndrome

233

(2)

Vasquez Syndrome

235

(2)

Waisman-Laxova Syndrome

237

(2)

Warkany Syndrome

239

(1)

Wieacker-Wolff Syndrome

240

(2)

Wilson-Turner Syndrome

242

(2)

Wittwer Syndrome

244

(2)

Xlid-Arch Fingerprints-Hypotonia Syndrome (See Also ATRX-Associated Xlid)

246

(2)

Xlid-Ataxia-Apraxia

248

(2)

Xlid-Ataxia-Dementia

250

(2)

XLID-Blindness-Seizures-Spasticity

252

(2)

XLID-Choreoathetosis

254

(1)

XLID-Choroideremia-Ectodermal Dysplasia

255

(1)

XLID-Cleft Lip/Cleft Palate

256

(2)

XLID-Epilepsy (XIDE)

258

(1)

XLID-Hydrocephaly-Basal Ganglia Calcifications (See Also AP1S2-Associated XLID)

259

(2)

XLID-Hypogammaglobulinemia

261

(2)

XLID-Hypogonadism-Tremor

263

(3)

XLID-Hypospadias

266

(1)

XLID-Hypotonia-Recurrent Infections

267

(3)

XLID-Ichthyosis-Hypogonadism

270

(1)

XLID-Infantile Spasms (See Also ARX-Associated XLID)

271

(2)

XLID-Isolated Growth Hormone Deficiency

273

(2)

XLID-Macrocephaly

275

(2)

XLID-Macrocephaly-Macroorchidism

277

(2)

XLID-Microcephaly-Testicular Failure

279

(2)

XLID-Nail Dystrophy-Seizures

281

(2)

XLID-Nystagmus-Seizures

283

(2)

XLID-Panhypopituitarism

285

(2)

XLID-Precocious Puberty

287

(1)

XLID-Psoriasis

288

(2)

XLID-Retinitis Pigmentosa

290

(2)

XLID-Rolandic Seizures

292

(1)

XLID-Spastic Paraplegia, Type 7

293

(2)

XLID-Spastic Paraplegia-Athetosis

295

(2)

XLID-Spondyloepimetaphyseal Dysplasia

297

(2)

XLID-Thyroid Aplasia-Cutis Verticis Gyrata

299

(1)

XLID With Thyroxine-Binding Globulin Deficiency

300

(1)

Young-Hughes Syndrome

301

(2)

Appendices

I Genes Involved In X-Linked Intellectual Disability (By Order Of Discovery)

303

(6)

II XLID Syndromes With Microcephaly

309

(1)

III XLID Syndromes With Macrocephaly

310

(1)

IV XLID Syndromes With Ocular Anomalies And/Or Visual Impairment

311

(3)

V XLID Syndrome With Hearing Loss

314

(1)

VI XLID Syndromes With Facial Clefting

315

(1)

VII XLID Syndromes With Cardiac Malformations Or Other Cardiovascular Abnormalities

316

(1)

VIII XLID Syndromes With Urogenital Anomalies

317

(1)

IX XLID Syndromes With Neuronal Migration Disturbance

318

(1)

X XLID Syndromes With Spastic Paraplegia

319

(1)

XI XLID Syndromes With Seizures

320

(2)

XII XLID Syndromes With Hypotonia

322

(1)

XIII XLID Syndromes Predominantly Affecting Females

323

(1)

XIV Duplication Of XLID Genes And Regions Of The X-Chromosome Genome

324

(3)

XV X-Inactivation

327

(4)

XVI Syndromal XLID Genes

331

(1)

XVII Syndromal XLID (Linkage Limits)

332

(1)

XVIII Nonsyndromal XLID Families

333

(1)

XIX Nonsyndromal XLID Families

334

(5)

Index

339

Roger E. Stevenson, M.D., is a senior clinical geneticist and founder of the Greenwood Genetic Center.

Charles E. Schwartz, Ph.D., is the Director of Research and Head of J.C. Self Research Institute at the Greenwood Genetic Center.

R. Curtis Rogers, M.D., is a senior clinical geneticist at the Greenwood Genetic Center.

Permanent link: https://www.kriso.lv/db/9780199811793_pe.html

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E-grāmata: Atlas of X-linked Intellectual Disability Syndromes 2nd Revised edition [Oxford Medicine Online E-books]

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