Oxford Monographs on Medical Genetics Ser.: X-Linked Mental Retardation by Charles E. Schwartz, Roger E. Stevenson and Richard J. Schroer (1999, Hardcover)
This is a comprehensive and up-to-date survey of mental retardation caused by genes on the X chromosome. Clinical and laboratory data on 130 syndromes are presented in a concise and consistent manner. Each syndrome is defined and information is provided on somatic features, growth anddevelopment, 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 toassist the reader in identifying other X-linked syndromes with overlapping features. As background, the X chromosome and the emergence of the concept of X-linked mental retardation are discussed. X-chromosome maps show the location and mapping limits of the responsible genes. The authors haveextensive experience in the clinical and laboratory delineation of X-linked mental retardation. They have described new syndromes, regionally mapped disease loci on the X chromosome, and in several cases isolated the genes responsible for X-linked syndromes.
Product Identifiers
Publisher
Oxford University Press, Incorporated
ISBN-10
0195129814
ISBN-13
9780195129816
eBay Product ID (ePID)
524426
Product Key Features
Author
Richard J. Schroer, Charles E. Schwartz, Roger E. Stevenson
Publication Name
X-Linked Mental Retardation
Format
Hardcover
Language
English
Series
Oxford Monographs on Medical Genetics Ser.
Publication Year
1999
Type
Textbook
Number of Pages
440 Pages
Dimensions
Item Length
10in
Item Height
1.3in
Item Width
7.3in
Item Weight
42.3 Oz
Additional Product Features
Series Volume Number
No. 39
Lc Classification Number
Rc574.S77 2000
Reviews
1. The X Chromosome Historical Notes Anatomy of the X Chromosome Regional Mapping of X-Linked Genes Inactivation Evolutionary Conservation The Other Sex Chromosome X-Linked Genes and Intelligence 2. Emergence of the Concept of X-Linked Mental Retardation Excess of Males with Mental Retardation X-Linked Mental Retardation Era I: 1868-1942 Era II: 1943-1968 Era III: 1969-1976 Era IV: 1977-1987 Era V: 1988 - Present Prevalence of X-linked Mental Retardation 3. Nonsyndromic XLMR Localization of Genes for Nonsyndromic XLMR Genes that Cause Nonsyndromic XLMR Counseling 4. Syndromic XLMR XLMR Syndromes with Malformations or Distinctive Craniofacial Findings Malformations and XLMR XLMR Syndromes with Neuromuscular Manifestations XLMR with Metabolic Derangements XLMR with Behavioral Disturbances XLMR Syndromes with Expression Predominantly in Females Private Syndromes 5. Atlas of XLMR Syndromes Aarskog Syndrome Adrenoleukodystrophy Aicardi Syndrome Albright Hereditary Osteodystrophy Allan-Herndon-Dudley Syndrome Apak Ataxia-Spastic Diplegia Syndrome Arena Syndrome Armfield Syndrome Arts Syndrome Atkin-Flaitz Syndrome Bergia Cardiomyopathy Bertini Syndrome Borjeson-Forssman-Lehmann Syndrome Brooks Syndrome Cantu Syndrome Carpenter-Waziri Syndrome Cerebrooculogenital Syndrome Cerebropalatocardiac Syndrome Charcot-Marie-Tooth Neuropathy, CowchockVariant Charcot-Marie-Tooth Neuropathy, Ionasescu Variant Christian Syndrome Christianson Syndrome Chudley-Lowry Syndrome Clark-Baraitser Syndrome Coffin-Lowry Syndrome Cranioorodigital Syndrome Duchenne Muscular Dystrophy Dyskeratosis Congenita Fitzsimmons Syndrome Fragile X Syndrome Glycerol Kinase Deficiency Gm3 Gangliosidosis Golabi-Ito-Hall Syndrome Goldblatt Spastic Paraplegia Syndrome Goltz Syndrome Graham Anophthalmia Syndrome Gustavson Syndrome Holmes-Gang Syndrome Hyde-Forster Syndrome Hydrocephaly-Cerebellar Agenesis Syndrome Incontinentia Pigmenti Jensen Syndrome Juberg-Marsidi Syndrome Kang Syndrome Lenz microphthalmia Syndrome Lesch-Nyhan Syndrome 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 Opitz FG Syndrome Oral-Facial-Digital Syndrome I Ornithine Transcarbamylase Deficiency Otopalatodigital I Syndrome Paine Syndrome Pallister W Syndrome Partington Syndrome Pelizaeus-Merzbacher Syndrome Periventricular Nodular Heterotopia Pettigrew Syndrome Phosphoglycerate Kinase Deficiency Plott Syndrome Porteous Syndrome PPM -X Syndrome Prieto Syndrome Proud Syndrome Pyruvate Dehydrogenase Deficiency Renpenning Syndrome Rett Syndrome Say-Meyer Syndrome Schimke Syndrome Simpson-Golabi-Behmel Syndrome Smith-Fineman-Myers Syndrome Snyder-Robinson Syndrome Stocco dos Santos Syndrome Stoll Syndrome Sutherland-Haan Syndrome Telecanthus-Hypospadias Syndrome Urban Syndrome VACTERL-Hydrocephalus Syndrome Vasquez Syndrome Waisman-Laxova Syndrome Warkany Syndrome Wieacker-Wolff Syndrome Wilson-Turner Syndrome Wittwer Syndrome X-Linked Agenesis of the Corpus Callosum X-Linked Ataxia-Deafness-Dementia X-Linked Ataxia-Dementia X-Linked Branchial Arch Syndrome X-Linked Hereditary Bullous Dystrophy X-Linked Hydrocephaly-MASA Spectrum X-Linked Lissencephaly X-Linked Optic-Atrophy X-Linked Spastic Paraplegia, Type 7 XLMR-Arch Fingerprints-Hypotonia Syndrome XLMR-Ataxia-Apraxia XLMR-Blindness
Table of Content
1. The X Chromosome1.1. Historical Notes1.2. Anatomy of the X Chromosome1.3. Regional Mapping of X-Linked Genes1.4. Inactivation1.5. The Other Sex Chromosome1.6. Evolutionary Conservation1.7. X-Linked Genes and Intelligence2. Emergence of the Concept of X-Linked Mental Retardation2.1. Mental Retardation2.2. Excess of Males with Mental Retardation2.3. X-Linked Mental Retardation2.4. Era I: 1968-19422.5. Era II: 1943-19682.6. Era III: 1969-19762.7. Era IV: 1977-19872.8. Era V: 1988 - Present2.9. Prevalence of X-linked Mental Retardation3. Nonsyndromic XLMR3.1. Definition3.2. Localization of Genes for Nonsyndromic XLMR3.3. Genes that Cause Nonsyndromic XLMR3.4. Counseling4. Syndromic XLMR4.1. Introduction4.2. XLMR Syndromes with Malformations or Distinctive Craniofacial Findings4.3. XLMR Syndromes with Neuromuscular Manifestations4.4. XLMR with Metabolic Derangements4.5. XLMR with Behavioral Disturbances4.6. XLMR Syndromes with Expression Predominantly in Females4.7. Private Syndrome5. Atlas of XLMR Syndromes: From Aarskog to Zollino