The scope of this text focuses on the practical topics that are receiving more and more emphasis in medical curriculums and medical practices on a daily basis. Basic concepts are introduced, but within the framework of commonly confronted clinical problems. Significant sections cover diagnosis, counseling and treatment of genetic disorders for which the second half of the book is devoted to the upcoming integration of genetic knowledge into medical practice, coupled with a review of the major advances in medical genetics. Boxed "Concept Questions" allow the user to assimilate facts as they read through the text, with answers provided at the end of the chapter. "Disease Boxes" test understanding of inheritability of both acquired and inherited diseases. Also included are standard family history algorithms for physicians and pedigree profiles for monogenic disorders.
What people are saying - Write a review
We haven't found any reviews in the usual places.
aberrant abnormal achondroplasia adult affected individuals affected males allele aortic autosomal biology blood cafe-au-lait spots cancer carrier Chapter chromo chromosome clinical complications considered CYTOGENETICS database deletions detected discussed disorders DNA sequence dominant drug example females fetal Fragile X syndrome frequency function G6PD Gaucher disease gene genetic changes genetic information genome groups hemoglobin hemophilia heterozygotes heterozygous homozygotes human hybridization identified important inactivation inherited involved karyotype kindred Knudson hypothesis lead levels likelihood linkage Marfan syndrome markers maternal meiosis mendelian metabolic methylation mitochondrial DNA molecular multiple mutant allele mutations myotonic dystrophy neurofibromas neurologic normal Obviously OMIM particularly patient pattern phenotype phenylalanine population possible potential pregnancy prenatal diagnosis present problems prominent protein rare recessive recognized recombination region relatively repeat risk shown in Figure sickle cell disease situation somatic specific structure studies testing tion tissues traits translocation treatment tumors Turner syndrome variations VRNF X-chromosome X-linked