1.

Record Nr.

UNINA9910876541303321

Autore

Engel Eric, Dr.

Titolo

Genomic imprinting and uniparental disomy in medicine [[electronic resource] ] : clinical and molecular aspects / / Eric Engel, Stylianos E. Antonarakis ; with contributions by CeĢlia D. Delozier-Blanchet and Robert Lyle

Pubbl/distr/stampa

New York, : Wiley-Liss, c2002

ISBN

1-280-36634-6

9786610366347

0-470-24216-7

0-471-45913-5

0-471-22193-7

Descrizione fisica

1 online resource (303 p.)

Altri autori (Persone)

AntonarakisStylianos E

Disciplina

572.86

616/.042

Soggetti

Genetic disorders

Genomic imprinting

Lingua di pubblicazione

Inglese

Formato

Materiale a stampa

Livello bibliografico

Monografia

Note generali

Errata slip inserted.

Nota di bibliografia

Includes bibliographical references and index.

Nota di contenuto

Genomic Imprinting and Uniparental Disomy in Medicine; Contents; Foreword; Preface; Acknowledgments; Chapter 1 Introduction; Chapter 2 Detection of Uniparental Disomy and Imprinting by DNA Analysis; Chapter 3 Mechanisms Generating Uniparently Disomy and Genomic Imprinting Disorders; Chapter 4 Uniparental Disomy for Individual Human Chromosomes: Review of Cases; Chapter 5 ''Old'' and ''New'' Syndromes with Uniparental Disomy; Chapter 6 The Prader-(Labhardt)-Willi Syndrome; Chapter 7 The Angelman Syndrome (AS); Chapter 8 The Beckwith-Wiedemann Syndrome (BWS)

Chapter 9 Genetic Counseling and Prenatal DiagnosisChapter 10 Genomic Imprinting in the Mouse; Chapter 11 Epilogue of an Unfinished Story; Index

Sommario/riassunto

Eric Engel and Stylianos Antonarakis have written the most authoritative and vital reference on molecular and clinical aspects of uniparental disomy (UPD) and genomic imprinting to date. Genomic Imprinting and



Uniparental Disomy in Medicine features comprehensive overviews of a multitude of genetic disorders linked to UPD, with a strong emphasis on clinical consequences. This book will provide readers with the tools necessary to identify and treat diseases associated with nontraditional chromosomal inheritance.Genomic Imprinting and Uniparental Disomy in Medicine features handy tables