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Full-Text Articles in Genetic Phenomena
Intellectual Disability Related To De Novo Germline Loss Of The Distal End Of The P-Arm Of Chromosome 17: A Case Report, Eden Pope, Matthew Huertas, Amar Paul, Braden Cunningham, Matthew Jennings, Ryan Perry, Stephanie Chavez, John A. Kriak, Kyle B. Bills, David W. Sant
Intellectual Disability Related To De Novo Germline Loss Of The Distal End Of The P-Arm Of Chromosome 17: A Case Report, Eden Pope, Matthew Huertas, Amar Paul, Braden Cunningham, Matthew Jennings, Ryan Perry, Stephanie Chavez, John A. Kriak, Kyle B. Bills, David W. Sant
Annual Research Symposium
Hypothesis/Purpose: In this report we present a case of a 20-year-old female with congenital intellectual disability, stunted growth, and hypothyroidism. Competitive genetic hybridization (CHG) revealed a loss of 17p13.3, and the deletion was not present in either parent. This deletion has not previously been characterized, but mutations on the p-arm of chromosome 17 are responsible for Miller-Dieker Syndrome and Isolated Lissencephaly Sequence, both of which share symptoms in common with the patient.
Methods: Peripheral mononuclear cells (PBMCs) were used for karyotyping and competitive genetic hybridization (CHG). Bioinformatic analysis was carried out using the Genome Data Viewer (ncbi.nlm.nih.gov/genome/gdv).
Results: Karyotype was …
Scrna Seq Analysis Of Ebv+ Associated Gastric Cancer, Eric Wang
Scrna Seq Analysis Of Ebv+ Associated Gastric Cancer, Eric Wang
Undergraduate Student Research Internships Conference
No abstract provided.
When Old-Order Amish Meet New Order Science: Genetic Maladies And The Amish Dilemma, Kelley Downey
When Old-Order Amish Meet New Order Science: Genetic Maladies And The Amish Dilemma, Kelley Downey
Undergraduate Research Conference
The Old World Amish, an Anabaptist Christian domination in the United States and Canada are know for their plain dress, avoidance of modern technology, and separation from the mainstream society.
A traditional agricultural religious group, the Old World Amish maintains isolation from the rest of the community. Financially well-off, they are homogeneous on education, occupation by gender, age at marriage, religion/ethnicity, and health care.
Although the Amish strongly discourage marriage between close cousins, the Lancaster Amish genealogy is described as mutational - inbreeding from multiple, remote connections rather than close consanguinity (first-cousin marriages).
Amish settlements have been identified with certain …