Atlas of X-Linked Intellectual Disability Syndromes

AvRoger E. Stevenson,Charles E. Schwartz

Inbunden, Engelska, 2012

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Beskrivning

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.

Produktinformation

Utgivningsdatum:2012-07-12
Mått:282 x 221 x 27 mm
Vikt:1 415 g
Format:Inbunden
Språk:Engelska
Antal sidor:368
Upplaga:2
Förlag:OUP USA
ISBN:9780199811793

Utforska kategorier

Medicinsk genetik inom Medicin
Klinisk medicin och internmedicin inom Medicin

Mer om författaren

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.

Innehållsförteckning

Aarskog Syndrome ; Abidi Syndrome ; Adrenoleukodystrophy ; Ahmad Syndrome ; Aicardi Syndrome ; Allan-Herndon-Dudley Syndrome ; Alpha-Thalassemia Intellectual Disability (see also ATRX-Associated XLID) ; AP1S2-Associated XLID ; Apak Ataxia-Spastic Diplegia Syndrome ; Arena Syndrome (see Pelizaeus-Merzbacher Syndrome) ; Armfield Syndrome ; Arts Syndrome ; ARX-Associated XLID ; Ataxia-Deafness-Dementia, X-linked ; Atkin-Flaitz Syndrome ; ATRX-Associated XLID ; Bergia Cardiomyopathy ; Bertini Syndrome ; Borjeson-Forssman-Lehmann Syndrome ; Branchial Arch Syndrome, X-Linked ; Cantu Syndrome ; Carpenter-Waziri Syndrome (see also ATRX-Associated XLID) ; Cerebro-Cerebello-Coloboma Syndrome ; Cerebro-Oculo-Genital Syndrome ; Cerebro-Palato-Cardiac Syndrome (see also Renpenning Syndrome) ; Charcot-Marie-Tooth Neuropathy, Cowchock Variant ; Charcot-Marie-Tooth Neuropathy, Ionasescu Variant ; Chassaing-Lacombe Chondrodysplasia ; Christian Syndrome ; Christianson Syndrome ; Chudley-Lowry Syndrome (see also ATRX-Associated XLID) ; CK Syndrome ; Clark-Baraitser Syndrome ; Coffin-Lowry Syndrome ; Cornelia de Lange Syndrome, X-Linked ; Craniofacioskeletal ; Duchenne Muscular Dystrophy ; Dyskeratosis Congenita ; Epilepsy-Intellectual Disability in Females ; Fitzsimmons Syndrome ; FLNA-Associated XLID ; Fragile X Syndrome ; Giuffre-Tsukahara Syndrome ; Glycerol Kinase Deficiency ; Golabi-Ito-Hall Syndrome (see also Renpenning Syndrome) ; Goldblatt Spastic Paraplegia Syndrome ; Goltz Syndrome ; Graham Anophthalmia Syndrome ; Gustavson Syndrome ; Hall Orofacial Syndrome ; Hereditary Bullous Dystrophy, X-Linked ; Holmes-Gang Syndrome (see also ATRX-Associated XLID) ; Homfray Seizures-Contractures ; Hyde-Forster Syndrome ; Hydranencephaly with Abnormal Genitalia ; Hydrocephaly-Cerebellar Agenesis Syndrome ; Hydrocephaly-MASA Spectrum ; Hypoparathyroidism, X-Linked ; Incontinentia Pigmenti ; Juberg-Marsidi-Brooks ; Kang Syndrome ; Lenz Microphthalmia Syndrome ; Lesch-Nyhan Syndrome ; Lissencephaly and Abnormal Genitalia, X-Linked (see also ARX-Associated XLID) ; Lissencephaly, X-Linked ; Lowe Syndrome ; Lujan Syndrome ; MEHMO Syndrome ; Menkes Syndrome ; MIDAS Syndrome ; Miles-Carpenter Syndrome ; Mohr-Tranebjaerg Syndrome ; Monoamine Oxidase-A Deficiency ; Mucopolysaccharidosis IIA ; Myotubular Myopathy ; Nance-Horan Syndrome ; Norrie Disease ; Optic Atrophy, X-Linked ; Opitz FG Syndrome ; Oral-Facial-Digital Syndrome I ; Ornithine Transcarbamoylase Deficiency ; Otopalatodigital Syndrome I (see also FLNA-Associated XLID) ; Otopalatodigital Syndrome II (see also FLNA-Associated XLID) ; Paine Syndrome ; Pallister W Syndrome ; Partington Syndrome (see also ARX-Associated XLID) ; Pelizaeus-Merzbacher Syndrome ; Periventricular Nodular Heterotopia (see also FLNA-Associated XLID) ; Pettigrew Syndrome ; Phosphoglycerate Kinase Deficiency ; Plott Syndrome ; Porteous Syndrome (see also Renpenning Syndrome) ; PPM-X ; Prieto Syndrome ; Proud Syndrome (see also ARX-Associated XLID) ; Pyruvate Dehydrogenase Deficiency ; Renpenning Syndrome ; Rett Syndrome ; Rett-like Seizures-Hypotonia ; Roifman Syndrome ; Say-Meyer Syndrome ; Schimke Syndrome ; Shashi Syndrome ; Shrimpton Syndrome ; Simpson-Golabi-Behmel Syndrome ; Smith-Fineman-Myers Syndrome ; Snyder-Robinson Syndrome ; Stocco dos Santos Syndrome ; Stoll Syndrome ; Sutherland-Haan Syndrome (see also Renpenning Syndrome) ; Telecanthus-Hypospadias Syndrome ; Turner XLID ; Urban Syndrome ; VACTERL-Hydrocephalus Syndrome ; Vasquez Syndrome ; Waisman-Laxova Syndrome ; Warkany Syndrome ; Wieacker-Wolff Syndrome ; Wilson-Turner Syndrome ; Wittwer Syndrome ; XLID-Agenesis of the Corpus Callosum ; XLID-Arch Fingerprints-Hypotonia Syndrome (see also ATRX-Associated XLID) ; XLID-Ataxia-Apraxia ; XLID-Ataxia-Dementia ; XLID-Blindness-Seizures-Spasticity ; XLID-Choreoathetosis ; XLID-Choroideremia-Ectodermal Dysplasia ; XLID-Cleft Lip/Cleft Palate ; XLID-Epilepsy (XIDE) ; XLID-Hydrocephaly-Basal Ganglia Calcifications (see also AP1S2-Associated XLID) ; XLID-Hypogammaglobulinemia ; XLID-Hypogonadism-Tremor ; XLID-Hypospadias ; XLID-Hypotonia-Recurrent Infections ; XLID-Ichthyosis-Hypogonadism ; XLID-Infantile Spasms (see also ARX-Associated XLID) ; XLID-Isolated Growth Hormone Deficiency ; XLID-Macrocephaly ; XLID-Macrocephaly-Macroorchidism ; XLID-Microcephaly-Testicular Failure ; XLID-Nail Dystrophy-Seizures ; XLID-Nystagmus-Seizures ; XLID-Optic Atrophy ; XLID-Panhypopituitarism ; XLID-Precocious Puberty ; XLID-Psoriasis ; XLID-Retinitis Pigmentosa ; XLID-Rolandic Seizures ; XLID-Spastic Paraplegia, Type 7 ; XLID-Spastic Paraplegia-Athetosis ; XLID-Spondyloepimetaphyseal Dysplasia ; XLID-Thyroid Aplasia-Cutis Verticis Gyrata ; XLID-Thyroxine-Binding Globulin Deficiency ; Young-Hughes Syndrome ; Appendices ; I. Genes Involved in X-Linked Intellectual Disability (by order of discovery) ; II. XLID Syndromes with Microcephaly ; III. XLID Syndromes with Macrocephaly ; IV. XLID Syndromes with Ocular Anomalies and/or Visual Impairment ; V. XLID Syndrome with Hearing Loss ; VI. XLID Syndromes with Facial Clefting ; VII. XLID Syndromes with Cardiac Malformations or other Cardiovascular Abnormalities ; VIII. XLID Syndromes with Urogenital Anomalies ; IX. XLID Syndromes with Neuronal Migration Disturbance ; X. XLID Syndromes with Spastic Paraplegia ; XI. XLID Syndromes with Seizures ; XII. XLID Syndromes with Hypotonia ; XIII. XLID Syndromes Predominately Affecting Females ; XIV. Duplication of XLID Genes and Regions of the X Chromosome Genome ; XV. Non-Syndromal XLID Families ; XVI. X-Inactivation in Heterozygous Females

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