Introduction In 2003, the sequencing of the human genome propelled the field of genetics in two important directions. Firstly, the concept of “genomics” emerged, which includes both the DNA sequence itself (the blueprint letters that direct genetic contributions to health,…
What Are Structural Chromosome Rearrangements and How Frequently Are They Seen in the General Population? As part of cytogenetic testing, the structure of each chromosome is assessed for (1) evidence of losses or gains of material; (2) internal rearrangements within…
What Is Cytogenetics? Cytogenetics is the study of chromosomes and the clinical application of chromosome analysis for diagnostic purposes. This chapter will deal with traditional cytogenetics, which involves examination of metaphase chromosomes. The normal euploid or diploid chromosome constitution in…
Overview Genetic counseling is a process of evaluating family history and medical information to advise patients of the risk of a genetic condition. This can have both a diagnostic and supportive element. The National Society of Genetic Counselors officially defines…
Introduction Mendel wrote in 1865 that when crossing plants, “numerous experiments have demonstrated that the common characters are transmitted unchanged to the hybrids and their progeny.” Mendel described that “common characters,” or genes, are passed unchanged from the parent to…
Introduction Few areas in medicine have seen such rapid and dramatic advances in knowledge and technology as the field of genetics has over the past two decades. Breakthroughs such as the mapping of the human genome and technological advancements enabling…