Medical Genetics for the Modern ClinicianMedical Genetics for the Modern Clinician is a concise, clinically oriented introductory genetics text for medical and allied health students, residents, and clinicians. The book focuses sharply on concepts that are most applicable to clinical practice. Ethics sections in each chapter discuss ethical issues facing today's practitioner, such as counseling, risk assessment, and testing. More than 120 illustrations help students visualize concepts. Each chapter ends with USMLE-style review questions. Appendices include a glossary and a Table of Genes that lists all genes covered in the text by chapter. Faculty resources, case studies, and downloadable full-color images will be available on connection.LWW.com/go/westman. |
Contents
Genetics in the Practice of Medicine | 1 |
A Review | 9 |
Microscopic Genetics | 19 |
Gene Structure | 39 |
Changes and Repair at the Molecular DNA Level | 57 |
Observation of Phenotypes | 77 |
Cancer Genetics | 103 |
Complex Diseases | 119 |
Common terms and phrases
abnormal activity affected allele amino acid associated autosomal recessive BRCA1 BRCA2 breast cancer caused cellular centromere Chapter child chro chromatids chromo chromosome clinical codon complex cytogenetic defects deficiency deletion diagnosis disease DNA sequence dominant drug embryo encodes enzyme exons female fetal FIGURE function fusion gene gene expression gene therapy genetic testing germline hereditary heterozygotes histone homolog HSCR Human Genome Huntington disease imprinted inactivation increased risk individuals inherited initial interaction intron kinase kinetochore leukemia males medical genetics medicine meiosis mendelian metabolism microsatellite microtubules missense mutation mitochondrial mitosis mitotic molecular mosaicism mosome multiple neural normal nuclear nucleotide occur oncogene pair patients pattern pedigree phenotype polymorphisms polyposis population pregnancy prenatal produce protein receptor recessive disorder regions relative repair replication result Robertsonian translocation somatic specific splicing stem cells structure tion tissue trait transcription factor translocation trisomy tumor twins Uniparental disomy USMLE-Style Questions vector X chromosome X-linked