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.

Contributors and ParticipantsPrefaceAcknowledgmentsNutritional Supplementation and Prevention of Neural Tube DefectsPrenatal Diagnosis of Hemoglobinopathies by Restriction Analysis: Methodology and ExperienceCurrent Concepts of Treatment in PhenylketonuriaEnzymological Diagnosis of Lysosomal Storage DisordersGenetic Heterogeneity and Complementation Analysis: General Principles and Studies in PropionicacidemiaDe Novo Structural Rearrangements: Implications for Prenatal DiagnosisChromosome Mosaicism and Pseudomosaicism in Prenatal Cytogenetic DiagnosisWho 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 RemarriageGenetic Counseling for Normal Parents with Two or More Retarded Children: A Diagnostic DilemmaThe Large-for-Gestational-Age(LGA) Infant in Dysmorphic PerspectiveCounseling in Cases of Idiopathic SyndromesGenetic Counseling in Psychiatric DisordersScreening and Prenatal Diagnosis of Cystic Fibrosis: Introduction and ReviewAntenatal Detection of Cystic FibrosisPrenatal Screening for Cystic FibrosisCystic Fibrosis: Immunoassays for Carrier Detection and Metabolic Correction in VitroGalton RevisitedIndex