Clinical Genetics. Problems in Diagnosis and Counseling

Content: 
BIRTH DEFECTS INSTITUTE SYMPOSIA, Page i
Front Matter, Page iii
Copyright, Page iv
CONTRIBUTORS AND PARTICIPANTS, Pages ix-x
PREFACE, Page xi
ACKNOWLEDGMENTS, Page xiii
NUTRITIONAL SUPPLEMENTATION AND PREVENTION OF NEURAL TUBE DEFECTS, Pages 1-9, Mary J. Seller
PRENATAL DIAGNOSIS OF HEMOGLOBINOPATHIES BY RESTRICTION ANALYSIS: METHODOLOGY AND EXPERIENCE, Pages 11-20, Corinne D. Boehm, John A. Phillips III, Stylianos Antonarakis, Haig H. Kazazian Jr.
CURRENT CONCEPTS OF TREATMENT IN PHENYLKETONURIA, Pages 21-35, Eileen R. Naughten, Harvey L. Levy
ENZYMOLOGICAL DIAGNOSIS OF LYSOSOMAL STORAGE DISORDERS, Pages 37-51, J.A. Lowden, M.A. Skomorowski, P.M. Strasberg, A. Novak
GENETIC HETEROGENEITY AND COMPLEMENTATION ANALYSIS: GENERAL PRINCIPLES AND STUDIES IN PROPIONIC ACIDEMIA, Pages 53-61, R.A. Gravel
DE NOVO STRUCTURAL REARRANGEMENTS: IMPLICATIONS FOR PRENATAL DIAGNOSIS, Pages 63-75, Dorothy Warburton
CHROMOSOME MOSAICISM AND PSEUDOMOSAICISM IN PRENATAL CYTOGENETIC DIAGNOSIS, Pages 77-105, Lillian Y.F. Hsu, Theresa E. Perlis
WHO GETS AMNIOCENTESIS?, Pages 107-117, Barbara A. Bernhardt, R.M. Bannerman
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, Pages 119-145, Ernest B. Hook, Philip K. Cross
GENETIC COUNSELING FOR NORMAL PARENTS WITH TWO OR MORE RETARDED CHILDREN: A DIAGNOSTIC DILEMMA, Pages 147-152, Lawrence R. Shapiro, Patrick L. Wilmot, Murray D. Kuhr, Evelyn Lilienthal, Linda C. Higgs
THE LARGE-FOR-GESTATIONAL-AGE (LGA) INFANT IN DYSMORPHIC PERSPECTIVE, Pages 153-169, M. Michael Cohen Jr.
COUNSELING IN CASES OF IDIOPATHIC SYNDROMES, Pages 171-185, John M. Opitz
GENETIC COUNSELING IN PSYCHIATRIC DISORDERS, Pages 187-193, John D. Rainer
SCREENING AND PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS: INTRODUCTION AND REVIEW, Pages 195-200, Kurt Hirschhorn
ANTENATAL DETECTION OF CYSTIC FIBROSIS, Pages 201-205, Henry L. Nadler, Kathi Mesirow, Phyllis Rembelski
PRENATAL SCREENING FOR CYSTIC FIBROSIS, Pages 207-214, David J.H. Brock
CYSTIC FIBROSIS: IMMUNOASSAYS FOR CARRIER DETECTION AND METABOLIC CORRECTION IN VITRO, Pages 215-256, Gregory B. Wilson
GALTON REVISITED, Pages 257-269, Robin M. Bannerman
INDEX, Pages 271-276