AH 1100 Lecture Notes - Lecture 3: Geneticist, Advanced Maternal Age, Down Syndrome

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Director, healthcare genetics professional science masters degree program. *connecticut state law mandates that all newborns delivered in connecticut be screened for selected genetic and metabolic disorders. Clinically applicable genetic tests may be used for: There are 66,831 tests available for 4,948 disorders for 5,874 genes. Imprinting disorders: those due to expression of a gene from only one parent. Changes in chromosome number or structure and the relationship to human diseases and physical and mental abnormalities. Karyotyping is the name of the process of identifying and evaluating human chromosomes. Advanced maternal age (greater than 35 years old) *there are 46 chromosomes in a human white blood cell. *there is a fault on chromosome 13, this chromosome helps diagnose down syndrome. Timely and credible information for the effective and responsible translation of genome-based discoveries into public health and health care. Phd: be the director of a lab/academic or clinical.

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