Full Description
This authoritative publication offers a rigorous clinical and molecular perspective on genomic imprinting and uniparental disomy (UPD), including a practical description of the laboratory tests used to assess relevant disorders. This work provides a full synopsis and discussion of genomic imprinting and helps to unravel the explosion of research advances since the discovery of UPD.
Contents
Foreword.Preface; Acknowledgements; Introduction; Detection of Uniparental Disomy and Imprinting by DNA Analysis; Mechanisms Generating Uniparently Disomy and Genomic Imprinting Disorders; Uniparental Disomy for Individual Human Chromosomes: Review of Cases; "Old" and "New" Syndromes with Uniparental Disomy; The Prader-(Labhardt)-Willi Syndrome; The Angelman Syndrome (AS); The Beckwith-Wiedemann Syndrome (BWS); Genetic Counseling and Prenatal Diagnosis; Genomic Imprinting in the Mouse; Epilogue of an Unfinished Story; Index