UID:
almafu_9959076721902883
Format:
1 online resource (176 p.)
ISBN:
1-283-15356-4
,
9786613153562
,
3-8055-9281-7
Series Statement:
Monographs in human genetics ;
Content:
This remarkable publication focuses on the importance of genetics in mental retardation, investigating the extent to which molecular diagnostic capability and the understanding of genetic causes have improved over recent years. As a result, clinical evaluation and diagnostic laboratory practice are now undergoing an unprecedented period of change. In a single volume, a unique combination of key individuals and world-class clinical, diagnostic and research-based experts share specialized, state-of the-art knowledge in this field. The parents’ perspective lies behind chapters dealing with issues such as: - Classification nomenclature - Well-known syndromes - How modern technologies have resulted in newly identified syndromes - How genome architecture can influence disease - Guidelines for clinical evaluation - Valuable database resources for clinical, diagnostic and research departments - Challenges involved in data interpretation and determining clinical relevance - Genetic overlaps with autism and schizophrenia - Processes of health service implementation Genetics of Mental Retardation is an invaluable resource for researchers and students with an active interest in the field. Furthermore, consultants and trainees in clinical genetics and pediatrics, and researchers working in clinical genetics laboratories will benefit from these reviews.
Note:
Description based upon print version of record.
,
""Cover""; ""Contents""; ""Editorial""; ""Preface""; ""Chapter 1""; ""A Parent�s Perspective""; ""Abstract""; ""Early Years""; ""Searching for Answers""; ""Trying to Cope and Autism""; ""The Importance of Making Contacts""; ""Changes in Circumstance and Mobilization of Support Services""; ""Life Gets Tougher""; ""Chrissy�s Uniqueness and my ChangingExpectations""; ""Treatment Approaches""; ""Progress and the Importance of a Diagnosis""; ""Letting Go""; ""Moving on and Breakthroughs""; ""Useful Services and Organisations""; ""References""; ""Chapter 2""
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""Mental Retardation: Definition, Classification and Etiology""""Abstract""; ""Introduction to Nomenclature""; ""Definition of MR""; ""Classification""; ""Syndromic and non-Syndromic MR""; ""Prevalence""; ""Etiology""; ""Chromosomal Abnormalities Associated withMR""; ""Aneuploidy""; ""Trisomy 21: Down Syndrome (OMIM 190685)""; ""Segmental Aneuploidy in MR""; ""Wolf-Hirschhorn Syndrome (OMIM 194190)""; ""Cri du Chat Syndrome (OMIM 123450)""; ""Chromosome 18p Deletion Syndrome (OMIM146390)""; ""Chromosome 18q Deletion Syndrome (OMIM601808)""
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""The FRAXA Fragile Site and Fragile XSyndrome (OMIM 300624, see also Chapter 8)""""Conclusion and Future Perspectives""; ""References""; ""Chapter 3""; ""Technological Advances in the Molecular Cytogenetic Diagnosis of Mental Retardation:Telomere Testing and Genome-wide Array Analysis""; ""Abstract""; ""Telomere Testing""; ""The Development of Telomere FISH Clones andFISH Analysis""; ""MLPA Analysis and Methodology for DetectingTelomere Imbalances""; ""Targeted aCGH for Assessing Telomere Imbalances""; ""Genome-wide Array Analysis""; ""Conclusions""; ""Acknowledgements""; ""References""
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""Chapter 4""""The Importance of Genome Architecture in Mental Retardation""; ""Abstract""; ""Historical Perspective""; ""The Segmental Duplication Architecture ofthe Human Genome""; ""Size and Orientation of Flanking SDs""; ""Copy Number Polymorphism of SD Blocks""; ""Polymorphic Inversions in the HumanGenome""; ""A Case Study: the 17q21.31 MicrodeletionSyndrome""; ""Predicting Recurrent Rearrangements Basedon Genome Architecture""; ""Non-recurrent Rearrangements""; ""Genomic Hotspots and Human Disease:Summary and Conclusions""; ""References""; ""Chapter 5""
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""The Clinical Evaluation of Patients with Mental Retardation/Intellectual Disability""""Abstract""; ""Definition of MR""; ""The Diagnostic Work-up""; ""Family History and Pedigree Showing at Least 3Generations""; ""Personal History""; ""Physical Examination""; ""Clinical Diagnosis""; ""Imaging and Laboratory Diagnostics""; ""Diagnostic Synthesis and Follow-up""; ""The Care of MR Patients""; ""Conclusion""; ""References""; ""Chapter 6""; ""Database Aids for the Evaluation of Mental Retardation""; ""Abstract""; ""Role of Databases in the Evaluation of Mental Retardation""; ""Phenotype""
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""Databases Useful in the Evaluation of Phenotypes Seen in MR""
,
English
Additional Edition:
ISBN 3-8055-9280-9
Language:
English
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