Event Title

A clinical review of the effects of Copy number variation and other mutations on 17q25.3

Location

Breakout Session A: Health Sciences I

CASB 101

Start Date

8-4-2022 1:45 PM

End Date

8-4-2022 2:00 PM

Description

The most recent published data concerning the clinical effects of genetic copy number mutations within chromosome 17q25.3 was in 2016. As such, this paper works to provide an up-to-date report on the possible clinical effects associated with copy number mutations within the region of 17q25.3. The purpose of which is to better aid physicians and genetic counselors in providing informative care to patients. These data were gathered from the historical records of Self Regional Medical Care and Greenwood Genetic Center (GGC). This report includes both the clinical, family, and genetic information that was gathered. A total of 15 patients were found to have deletion, multiplication, triplications and/or copy number variations (CNVs) within chromosome 17q25.3, provided by GGC’s microarray lab. The data were recorded and examined for possible correlations. A wide range of clinical features were recorded, with a high prevalence of developmental delays, ectodermal disorders, behavioral, and cardiovascular abnormalities. The majority of patients also exhibited below average physical measurement percentiles, such as weight height and head circumference. There were also occurrences of mutations associated with known genetic disease diagnosis, such as Sanfilippo syndrome type A. Some patients were also found to have other accompanying genetic mutations. In select cases, there was also genetic testing done on the parental generation. This provided evidence for direct genetic traits in subsequent generations. There was also a widespread variation in the size and placement of mutations within 17q25.3; however, those with overlapping mutations did not share mutually exclusive traits. Thus, suggesting that factors other than the specific location of the mutation led to the observed physical traits.

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Apr 8th, 1:45 PM Apr 8th, 2:00 PM

A clinical review of the effects of Copy number variation and other mutations on 17q25.3

Breakout Session A: Health Sciences I

CASB 101

The most recent published data concerning the clinical effects of genetic copy number mutations within chromosome 17q25.3 was in 2016. As such, this paper works to provide an up-to-date report on the possible clinical effects associated with copy number mutations within the region of 17q25.3. The purpose of which is to better aid physicians and genetic counselors in providing informative care to patients. These data were gathered from the historical records of Self Regional Medical Care and Greenwood Genetic Center (GGC). This report includes both the clinical, family, and genetic information that was gathered. A total of 15 patients were found to have deletion, multiplication, triplications and/or copy number variations (CNVs) within chromosome 17q25.3, provided by GGC’s microarray lab. The data were recorded and examined for possible correlations. A wide range of clinical features were recorded, with a high prevalence of developmental delays, ectodermal disorders, behavioral, and cardiovascular abnormalities. The majority of patients also exhibited below average physical measurement percentiles, such as weight height and head circumference. There were also occurrences of mutations associated with known genetic disease diagnosis, such as Sanfilippo syndrome type A. Some patients were also found to have other accompanying genetic mutations. In select cases, there was also genetic testing done on the parental generation. This provided evidence for direct genetic traits in subsequent generations. There was also a widespread variation in the size and placement of mutations within 17q25.3; however, those with overlapping mutations did not share mutually exclusive traits. Thus, suggesting that factors other than the specific location of the mutation led to the observed physical traits.