Background, Diagnosis, Types, Management/Prevention and Implications of Chromosomal Abnormalities

Abstract

Chromosomal abnormalities are caused by both meiotic and mitotic errors, and can be found in both reproductive and somatic cells. Meiotic and mitotic errors, on the other hand, may result in the development of abnormal copies of chromosomes. Somatic cell chromosomal abnormalities cause mosaicism, which implies that certain cells are normal while others express the abnormality. Fascinating genetic chromosomal discoveries have given answers to mysteries in children suffering from premature growth/retardation, ambiguous genitalia, metabolic disorders, dysmorphic syndromes, primary amenorrhea, infertility, recurrent pregnancy loss, and cancers. Many factors influence the risk of chromosomal abnormalities, including advanced maternal age, environmental factors such as smoking, alcohol intake, and exposure to chemicals/radiation, and family history. It is an inevitable fact that majority of chromosomal abnormalities arise spontaneously and are not treatable. Much attention has not been devoted to the study of chromosomal abnormalities in order to better understand the pathogenesis and rising prevalence of various clinical conditions. This chapter will address the relationship of chromosomal abnormalities in various conditions with the goal of increasing awareness of causes and furthering diagnosis, management/treatment, counseling, and prevention options. Furthermore, preimplantation and prenatal testing can be planned from the laboratory bench to the clinical bedside using sophisticated molecular techniques.