Atlas of Genetic Diagnosis and Counseling - H. Chen.pdf - Genetyka, biologia molekularna, inżynieria genetyczna - kranium

A TLAS OF G ENETIC D IAGNOSIS AND C OUNSELING

A TLAS OF G ENETIC

D IAGNOSIS

AND C OUNSELING

H AROLD C HEN , MD , FAAP , FACMG

Professor of Pediatrics, Obstetrics and Gynecology, and Pathology,

Louisiana State University Health Science Center, Shreveport, LA

999 Riverview Drive, Suite 208

Totowa, New Jersey 07512

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e-ISBN 1-59259-956-7

Printed in the United States of America. 10 9 8 7 6 5 4 3 2 1

Library of Congress Cataloging-in-Publication Data

Atlas of genetic diagnosis and counseling / authored by Harold Chen.

p. cm.

Includes bibliographical references.

ISBN 1-58829-681-4 (alk. paper)

1. Genetic disorders--Diagnosis--Atlases. 2. Genetic counseling--Atlases.

[DNLM: 1. Genetic Diseases, Inborn--Atlases. 2. Genetic Counseling--Atlases. 3. Prenatal Diagnosis--Atlases. QZ 17 A880383 2006] I. Chen, Harold.

RB155.6.A93 2006

616'.042--dc22

2005005388

Preface

This book, Atlas of Genetic Diagnosis and

Counseling, reflects my experience in 38 years of

clinical genetics practice. During this time, I have

cared for many patients and their families and taught

innumerable medical students, residents, and prac-

ticing physicians. As an academic physician, I have

found that a picture is truly “worth a thousand

words,” especially in the field of dysmorphology.

Over the years, I have compiled photographs of my

patients, which are incorporated into this book to

illustrate selected genetic disorders, malformations,

and malformation syndromes. A detailed outline of

each disorder is provided, describing the genetics,

basic defects, clinical features, diagnostic investiga-

tions, and genetic counseling, including recurrence

risk, prenatal diagnosis, and management. Color

photographs are used to illustrate the clinical fea-

tures of patients of different ages and ethnicities.

Photographs of prenatal ultrasounds, imagings, cyto-

genetics, and postmortem findings are included to

help illustrate diagnostic strategies. The cases are

supplemented by case history and diagnostic confir-

mation by cytogenetics, biochemical, and molecular

studies, if available. An extensive literature review

was done to ensure up-to-date information and to

provide a relevant bibliography for each disorder.

This book was written in the hope that it will

help physicians improve their recognition and

understanding of these conditions and their care of

affected individuals and their families. It is also my

intention to bring the basic science and clinical med-

icine together for the readers. Atlas of Genetic

Diagnosis and Counseling is designed for physicians

involved in the evaluation and counseling of patients

with genetic diseases, malformations, and malforma-

tion syndromes, including medical geneticists,

genetic counselors, pediatricians, neonatologists,

developmental pediatricians, perinatologists, obste-

tricians, neurologists, pathologists, and any physi-

cians and health care professionals caring for

handicapped children such as craniofacial surgeons,

plastic surgeons, otolaryngologists, and orthopedics.

I am grateful to many individuals for their

invaluable help in reading and providing cases for

illustration. The acknowledgments are provided on

a separate page. Without the patience and encour-

agement of my dear wife, Cheryl, this atlas would

not have been possible. I would like to dedicate

this book to Children’s Hospital, Louisiana State

University Health Sciences Center in Shreveport,

for its continued excellence in pediatric care and

education.

I would welcome comments, corrections, and crit-

icism from readers.

Harold Chen, MD , FAAP , FACMG

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