A-Z of Syndromes and Inherited Disorders

A-Z of Syndromes and Inherited Disorders PDF Author: Patricia Gilbert
Publisher: Nelson Thornes
ISBN: 9780748745296
Category : Family & Relationships
Languages : en
Pages : 358

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Book Description
The incidence of handicap from syndromes and inherited disorders is worldwide and causes common problems for families and society. This book includes ten extra syndromes in an endeavour to keep up with the rapidly expanding knowledge associated with genetic disorders.

A-Z of Syndromes and Inherited Disorders

A-Z of Syndromes and Inherited Disorders PDF Author: Patricia Gilbert
Publisher: Nelson Thornes
ISBN: 9780748745296
Category : Family & Relationships
Languages : en
Pages : 358

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Book Description
The incidence of handicap from syndromes and inherited disorders is worldwide and causes common problems for families and society. This book includes ten extra syndromes in an endeavour to keep up with the rapidly expanding knowledge associated with genetic disorders.

The A-Z Reference Book of Syndromes and Inherited Disorders

The A-Z Reference Book of Syndromes and Inherited Disorders PDF Author: P A T R I C I A GILBERT
Publisher: Springer
ISBN: 1489969187
Category : Medical
Languages : en
Pages : 389

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Book Description
The A-Z Reference Book of Syndromes and Inherited Disorders provides a practical reference for carers and those with a syndrome or inherited disorder. It describes the disorders and problems of both children and adults, considers the day-to-day management of conditions and is written in non-technical language for a wider audience whilst giving enough detail for the medical, nursing and midwifery professions. The text is well indexed and has an extensive glossary. Whilst new methods of diagnosis, investigation and treatment will, of course. occur over the next few years, the basics described in this book will still apply. Social workers, nursery nurses and educationalists will find this reference source invaluable as a basis for assessing needs and potential in their students and clients.

The A-Z Reference Book of Syndromes and Inherited Disorders

The A-Z Reference Book of Syndromes and Inherited Disorders PDF Author: Patricia Gilbert
Publisher:
ISBN: 9781565931183
Category : Abnormalities
Languages : en
Pages : 259

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Book Description


Genetic Syndromes

Genetic Syndromes PDF Author: Nima Rezaei
Publisher:
ISBN: 9783319668161
Category : Genetic disorders
Languages : en
Pages : 8970

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Book Description
This comprehensive reference work covers the full range of congenital syndromes. The first section uses a general approach discussing broad topics such as worldwide prevalence and possible etiologies of congenital syndromes including genetics, epigenetics and environmental factors. As well as the most common inheritance patterns of congenital syndromes. The next part of the work is organised in sections based on system specified classification of congenital syndromes. The main characteristics of each syndrome are summarized, including background and history, other name, etiology (genetics, epigenetics, and environment), clinical presentation, diagnosis, treatment, follow-up and prognosis, and differential diagnosis. Covering all known congenital syndromes and defining their characteristics, this book is the ultimate reference for clinicians, researchers, and students primary in the fields of genetics and pediatrics but also in other fields as it covers the syndromes of all systems. This book is particularly useful for clinicians in diagnostic and therapeutic approaches to patients. With its apposite and easy-to-use classification this reference work offers straight-forward access to each syndrome. .

The Encyclopedia of Genetic Disorders and Birth Defects

The Encyclopedia of Genetic Disorders and Birth Defects PDF Author: James Wynbrandt
Publisher: Infobase Publishing
ISBN: 1438120958
Category : Juvenile Nonfiction
Languages : en
Pages : 705

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Book Description
Presents information on congenital birth defects, giving the name, known or suspect cause and brief description as well as available treatments where applicable.

Syndromes: Rapid Recognition and Perioperative Implications

Syndromes: Rapid Recognition and Perioperative Implications PDF Author: Bruno Bissonnette
Publisher: McGraw-Hill Education / Medical
ISBN:
Category : Medical
Languages : en
Pages : 988

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Book Description
Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.

Genetic Disorders

Genetic Disorders PDF Author: Robin Santos Doak
Publisher: Benchmark Education Company
ISBN: 1450908020
Category : Genetic disorders
Languages : en
Pages : 36

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Book Description
Readers learn about different types of genetic disorders. They learn how some are passed down from parent to child while others happen when the environment affects genes.

Genetic Syndromes in Communication Disorders

Genetic Syndromes in Communication Disorders PDF Author: Jack H. Jung
Publisher: Pro Ed
ISBN: 9781416404668
Category : Education
Languages : en
Pages : 272

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Book Description
A human DNA sequence consists of 23 pairs of chromosomes. Each pair of chromosomes is further made up of for normal genetic growth and development. When the sequence has too many or is missing one or more chromosomes, or if a gene mutates, the information process becomes interrupted. This lack of or extra information causes a genetic disorder or syndrome. Such errors sometime lead to abnormal growth and development involving speech, language, and hearing. This comprehensive reference guide assists students, teachers, and practitioners in the applied health sciences field by providing general diagnostic and management guidelines. While not a comprehensive review of all existing genetic syndromes involving communication disorders, it is a concise text highlighting the syndromes commonly seen in interdisciplinary clinics (e.g., Downs Syndrome, Huntington's Disease, or Oto-Palatal-Digital, etc.) Chapters: 1.Principles of Medical genetics 2.Chromosomal syndromes 3.Single Gene Syndrome (Autosomal Dominant, Autosomal Recessive, and X-Linked Diseases) 4.Polygenic-Multifactorial syndromes 5.Non-Syndromic Hearing Loss 6.Sporadic syndromes 7.Environmental syndromes. Also included are (a) a glossary of genetic and medical terms, (b) a cross-reference index of syndromes by physical abnormality, and (c) Illustrations detailing specific characteristic dysmorphology of syndromes.

Molecular Diagnosis of Genetic Diseases

Molecular Diagnosis of Genetic Diseases PDF Author: Rob Elles
Publisher: Springer Science & Business Media
ISBN: 1592594328
Category : Medical
Languages : en
Pages : 392

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Book Description
This completely revised and updated second edition to integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.

Genetic Disorders of the Indian Subcontinent

Genetic Disorders of the Indian Subcontinent PDF Author: Dhavendra Kumar
Publisher: Springer Science & Business Media
ISBN: 140202231X
Category : Medical
Languages : en
Pages : 611

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Book Description
The Indian subcontinent is a vast land mass inhabited by over one billion people. Its rich and varied history is reflected by its numerous racial and ethnic groups and its distinct religious, cultural and social characteristics. Like many developing countries in Asia, it is passing through both demographic and epidemiological transitions whereby, at least in some parts, the diseases of severe poverty are being replaced by those of Westemisation; obesity, diabetes, and heart disease, for example. Indeed, as we move into the new millennium India has become a land of opposites; on the one hand there is still extensive poverty yet, on the other hand, some of the most remarkable developments in commerce and technology in Asia are taking place, notably in the fields of information technology and biotechnology. India has always fascinated human geneticists and a considerable amount of work has been done towards tracing the origins of its different ethnic groups. In the current excitement generated by the human genome project and the molecular and genetic approach to the study of human disease, there is little doubt that this field will develop and flourish in India in the future. Although so far there are limited data about genetic diseases in India, enough is known already to suggest that this will be an extremely fruitful area of research.