CHELSEY BURDEN
CAPSTONE
Capstone Project Committee: Patrick Koty, Ph.D., FACMG; Pamela Reitnauer, M.D., Ph.D.; Randi Stewart, M.S., CGC
The duplications and deletions of chromosome 8p23 are rare genetic conditions that display phenotypic continuums. Due to the variable expression and rarity of these disorders, in addition to the recently enhanced ability to detect subtle genetic imbalances, there is currently limited data regarding the frequent genotype-phenotype associations for each condition. To contribute to this limited medical knowledge, symptoms associated with four patients with either an 8p23 deletion or duplication, as identified and characterized by genomic studies, are described. The genotype-phenotype correlation was evaluated for each patient and compared to previously reported individuals with 8p23 duplication or deletion syndromes. The chromosome abnormalities of the four patients of this study were all found to be clinically significant. Two of the four patients were susceptible to a chromosome rearrangement, due to the involvement of two olfactory receptor gene clusters, REPD (REPeat Distal) and REPP (REPeat Proximal) that flank a 5 Mb region of 8p23.1. Additionally, the genomic variation in three patients involved at least one previously suggested candidate gene (GATA4, SOX7, TNKS, MCPH1, or MSRA) within the REPD and REPP interval. Although 8p23 duplication and deletion syndromes are rare and variable conditions, this study contributes to the limited amount of medical literature regarding the recurring genotype-phenotype correlations. Cytogenomic characterization of additional affected individuals will provide further clarification of the genotype-phenotype correlation of 8p23 duplication and deletion syndromes. Genetic counselors should evaluate and discuss the various implications of the condition (such as recurrence risks and testing options for family members or a future pregnancy) and provide resources to families.
Since Graduation
Since graduating in 2016, Chelsey moved back to the great state of Texas to be closer to family. Chelsey has been working as a cancer genetic counselor at Baylor Scott & White in Dallas for the last five years. In addition to seeing patients, Chelsey wears many other hats in this role, including developing numerous policies and standard operating procedures that are implemented across Baylor campuses, participating in a variety of community health fairs, educating physicians on the complexities of genetic testing, streamlining referrals from a newly-developed High Risk Breast Imaging Center, developing and expanding a telegenetics program, evaluating downstream revenue of the genetics department, and representing her department at various administrative meetings. Oh and let’s not forget her favorite role yet – being the primary supervisor to GC students!
On a personal note, Chelsey is now the proud (and fun!) aunt to four nieces and two nephews – all under the age of two! From swimming with sharks in Belize to hiking the Rocky Mountains in Banff, Chelsey has also become quite the world traveler over the last few years! She is giddy with excitement for her next trip this summer, where she will be spending two weeks exploring Israel!