Case Study 2: Down Syndrome

Down syndrome disorder is one of the leading intellectual disability disorders. It is characterized by a variety of health infections, including memory and learning, leukemia, CHD (congenital heart diseases), HD (Hirschprung diseases), and Alzheimer s disease (Polipalli et al., 2016). The human body cells contain genes clustered along chromosomes in the nucleus of the cells, with each cell containing 46 chromosomes inherited equally from the parents. This case study provides the causes, available chromosomal analysis, clinical practice considerations, and patient education interventions for Down syndrome.

Causes of the Disorder

It occurs to persons of all races and economic statuses, though mothers of 35 years and above are the most prevalent to have a baby with the disorder. The leading cause of the disorder is the dosage imbalance of the genes in chromosome 21, where an extra copy of chromosome 21 causes trisomy, as described by the gene dosage imbalance hypothesis. According to the hypothesis, this gene dosage imbalance indicates an increase in gene expression (Asim et al., 2015). The hypothesis further highlights that gene subsets or even specific genes can potentially control specific phenotypes of Down syndrome disorder.