Clinical Genetics

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.

Contenu

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