Date of Award

5-2024

Document Type

Honors Thesis

Degree Name

Bachelor of Arts

Department

Anthropology

Advisor/Committee Chair

John D. Polk

Abstract

Microdeletions, deletions of part of a chromosome that are too small to be detected by light microscopy using conventional cytogenetic methods, have become a hot topic for geneticists over the past decade or so. Occurring in around one in every 4000 live births, some of these microdeletions do not allow for a viable offspring, while others have distinctive developmental consequences. Many of the genes on chromosome 7 play a large role in the early development of the head, face, and limbs and more generally on cell growth and division (Bethesda 2022). This research study reviews known microdeletions on the seventh chromosome and the impact they have on individuals. Comparisons were made between five different microdeletion disorders (7p11.23, 7p22.1, 7q31.1, 7p22.3, and 7q11.22), including prominence and characteristics of each microdeletion individually. It was found that most of these deletions were associated with distinct facial features (4/5), short stature (3/5), behavioral problems (4/5), were linked with other health problems (3/5), and occurred de novo (3/5), and all of these deletions were linked to intellectual disabilities. By knowing more on these conditions, it can be properly diagnosed more frequently, such as by detecting the distinct facial features in the pre-natal stage. Lastly, though treatment is very much in its beginning stages, somatic gene therapy can be used to change the DNA in the cells of the adults or children who have these conditions, as this technique goes directly toward the cause of the problem, rather than trying to treat the symptoms.

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