Clinical Genetics: A Short CourseWith the advent of genetic engineering and mapping of the human genome, public awareness concerning the contributions that genetic disorders make to illness or death has increased significantly. The fields of human and medical genetics have continued to expand and offer new ways of understanding, preventing, and managing patients with genetic disorders. At the core of the genetic approach are the ideas of anticipation and prevention, which are essential for modern medical practice. Clinical Genetics: A Short Course explains the importance of being able to anticipate disease based on individual characteristics or a family history, and then providing the necessary measures to forestall further complications. Each informative chapter commences with a case presentation and an explanation of medical terms. As the book progresses and new concepts are introduced, each case is updated. Clinical Genetics clarifies that, although individual genetic disease may be rare, it is an inescapable part of medicine. Text contains: * Both basic principles and differential diagnosis and management * Case-oriented problems, including answers and solutions * Over 300 illustrations to clarify clinical cases * Actual patient material * Glossary of genetic and medical terminology Clinical Genetics: A Short Course emphasizes clinical, rather than traditional human genetics, and is a vital resource for medical, clinical, and human geneticists, as well as other health care professionals. |
Contents
Genes Traits and Pedigrees | 3 |
PART II | 16 |
Genetics in Medicine | 19 |
Copyright | |
26 other sections not shown
Common terms and phrases
AA AA AA abnormal allele achondroplasia amino acid analysis anemia associated autosomal dominant autosomal recessive blood cancer cardiac carrier cause cellular Chapter child cholesterol chromo chromosome cleft palate clinical cloning congenital anomalies cystic fibrosis defects deficiency deletions developmental diabetes diagnosis disorders DNA segments drome dysplasia embryos enzyme exhibit family history fected females fetal Figure gene genetic counseling genetic disease genome genotype growth human illustrated inheritance isolated karyotype limb linkage liver loci locus males malformation Marfan syndrome maternal Mendelian Mendelian inheritance ment mental metabolic molecular molecules mosome multifactorial multiple mutant alleles mutations netic normal nucleotide occur offspring organic parents patients pedigree phenotype polymorphisms population pregnancy prenatal produce protein Punnett square receptor recombination recurrence risk region renal risk factors screening sequence sickle cell sonic hedgehog specific syndrome Table testing therapy tion tissue traits translocation trisomy tumor twins uniparental disomy X chromosome X-linked recessive