PDQ Medical Genetics
Description PDQ Medical Genetics challenges students to learn to think genetically, to recognize genetic factors, and to explain genetics to patients. The author presents an approach to solving clinical problems with genetic components rather than on the presentation of facts that would soon fall out of date. The text is problem-oriented. Each chapter opens with a case scenario designed to direct the student toward learning both the clinical and the basic biological science. The featured scenarios also provide direction in the dealing with a patient's, and family's, personal difficulties by listing genetic disease support groups. The informative text also emphasizes how to go about obtaining the latest information on such topics as molecular testing and imaging techniques. Key Features Features topics not found in most genetics texts designed primarily for medical students such as complex disorders, ambiguous genitalia, pharmacogenetics, and bone dyspasias. Includes a dual-platform mini-CD-ROM with the complete text and illustrations, in fully searchable PDF files Incorporates references and links to carefully selected websites for additional readings and a bonus self-assessment question and answer section for each chapter - all included on the accompanying CD-ROM This book will help students understand the nature of genetics and how its principles flow from those of evolution and natural selection. It provides to the medical student an approach to solving clinical probl ems and provides a conceptual framework within which to sort it all ou t. Davidson approaches the subject of medical genetics as students wil l encounter it - clinically. The book is problem-based, and each chapt er begins with a case scenario requiring a knowledge of genetics with which the practicing physician will have to come to grips fairly frequ ently with the emphasis on having the student recognize the applicatio ns of basic science data and solving the problem presented. It
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Introduction to Human Genetics
Approach to the Child with Congenital
9 other sections not shown
abnormal achondroplasia acid addition adrenal affected individuals age of onset alcohol alleles Alzheimer's disease ambiguous genitalia amniocentesis androgen anemia Ashkenazi Ashkenazi Jews autosomal recessive biochemical birth blood bone dysplasia brain BRCA mutations carrier cause cells chapter child chromosome anomalies Clinical Scenario complex disorders condition congenital anomalies defects deficiency developmental differentiation drug duct embryo enzyme example factors family history female fetal ultrasonography fetus FGFR3 Figure G6PD gene genetic counseling genital genome gonadal growth homozygous hormone Human Genetics Huntington's disease hypoplasia imprinting inactivation incidence increased risk infants infection inherited issues male malformations malignant hyperthermia maternal metabolism mitochondrial molecular mother mutant alleles mutations newborn screening normal NTDs occur ovarian cancer parents patient pedigree Pharmacogenetics phenotype phenylalanine physician population pregnancy prenatal diagnosis protein rare receptor relatively result serum specific studies susceptibility syndrome teratogens therapy tion tissue trait trisomy 18 typical usually variability weeks woman women X-linked