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Clinical Genetics - 1st Edition - ISBN: 9780127518602, 9781483282084

Clinical Genetics

1st Edition

Problems in Diagnosis and Counseling

Editors: Ann M. Willey Thomas P. Carter Sally Kelly
eBook ISBN: 9781483282084
Paperback ISBN: 9781483248561
Hardcover ISBN: 9780127518602
Imprint: Academic Press
Published Date: 28th January 1982
Page Count: 290
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Clinical Genetics: Problems in Diagnosis and Counseling presents the proceedings of the Twelfth Annual New York State Health Department Birth Defects Symposium. The book provides practical information applicable to counseling situations for selected diagnoses and a summary of the limitations of diagnosis and counseling for genetic disorders. The text contains chapters devoted to the description of restriction enzyme site detection and prenatal diagnosis of hemoglobinopathy; counseling for mental retardation of unknown etiology, for idiopathic dysmorphic syndromes, and for psychiatric disorders; interpretation of prenatal cytogenetic diagnosis; preconceptual vitamin supplementation; and cystic fibrosis. Geneticists, clinicians, and physicians will find the book insightful.

Table of Contents

Contributors and Participants



Nutritional Supplementation and Prevention of Neural Tube Defects

Prenatal Diagnosis of Hemoglobinopathies by Restriction Analysis: Methodology and Experience

Current Concepts of Treatment in Phenylketonuria

Enzymological Diagnosis of Lysosomal Storage Disorders

Genetic Heterogeneity and Complementation Analysis: General Principles and Studies in Propionicacidemia

De Novo Structural Rearrangements: Implications for Prenatal Diagnosis

Chromosome Mosaicism and Pseudomosaicism in Prenatal Cytogenetic Diagnosis

Who Gets Amniocentesis?

Interpretation of Recent Data Pertinent to Genetic Counseling for Down Syndrome: Maternal-Age-Specific-Rates, Temporal Trends, Adjustments for Paternal Age, Recurrence Risks, Risks After Other Cytogenetic Abnormalities, Recurrence Risk After Remarriage

Genetic Counseling for Normal Parents with Two or More Retarded Children: A Diagnostic Dilemma

The Large-for-Gestational-Age(LGA) Infant in Dysmorphic Perspective

Counseling in Cases of Idiopathic Syndromes

Genetic Counseling in Psychiatric Disorders

Screening and Prenatal Diagnosis of Cystic Fibrosis: Introduction and Review

Antenatal Detection of Cystic Fibrosis

Prenatal Screening for Cystic Fibrosis

Cystic Fibrosis: Immunoassays for Carrier Detection and Metabolic Correction in Vitro

Galton Revisited



No. of pages:
© Academic Press 1982
28th January 1982
Academic Press
eBook ISBN:
Paperback ISBN:
Hardcover ISBN:

About the Editors

Ann M. Willey

Thomas P. Carter

Sally Kelly

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