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Elsevier

Clinical Genetics

Problems in Diagnosis and Counseling

  • 1st Edition - January 28, 1982
  • Latest edition
  • Editors: Ann M. Willey, Thomas P. Carter, Sally Kelly
  • Language: English

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… Read more

Description

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

Preface

Acknowledgments

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

Index

Product details

  • Edition: 1
  • Latest edition
  • Published: April 24, 2014
  • Language: English

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