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Dow Down Syndrome Research Paper

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Down syndrome (DS) is a genetic disorder that is associated with growth delays, specific facial characteristics, and includes some mild to moderate intellectual disability. DS occurs due to an extra chromosome, and is often referred to as trisomy 21. Patients with DS have either a partial or full extra copy of chromose 21. The purpose of this paper is to describe the pathophysiology and epidemiology of the disorder. Next, the paper identifies family history and genetic testing options that are currently available. This paper covers bioethical principles that should be considered when providing healthcare to families that are caring for a dependent with DS. And finally, this paper discusses specific challenges and successes regarding healthcare services for DS.
Pathophysiology and epidemiology …show more content…
DS was first discovered in the mid 1800s after a group of physicians recognized a set of patients with very distinctive facial and mental characteristics. John Langdon Down, a nineteenth century English physician was the first to publish an accurate description and to describe the disorder as a specific condition. It was not until 1959, that Jerome Lejeune identified DS as a chromosomal anomaly. While DS is frequently related to some forms of intellectual disability, there are several abnormalities, which characterize the disorder. The DS population is typically described as having some form of mental retardation, short stature, an upward slant to the eyes (oblique eyes), a flat nasal bridge, a deep crease in the center of the palm, low muscle tone, and protruding tongue. While most individual DS have these physical characteristics, the level of mental disability varies

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