Case Number: 987654MClient Name: Mason, JulietteReason referred: Parents concern due to brothers death by an aneurysmDate of session: 2/7/19Time of session: 12:12 pmNext session: 2/8/19NOTESToday you have been brought here to discuss a parental concern for Marfan's syndrome.Okay, so we shall discuss a range of topics today, so don't hesitate to ask any questions…Marfan's syndrome is an inherited in an autosomal dominant pattern. Itscaused by a defectin the gene that enables your body to produce a protein providing connective tissue itselasticity and strength. To further elaborate, each individual has two copies of most genesin their cells. When a couple has a child, each parent transmits only one copy to the child.Disorders in which there is a mutation, or change, in one copy of a gene that produce amedical condition are called dominant disorders. Marfan syndrome is a dominant disorderin which one copy of the FBN1 gene has a mutation that affects the function of the protein,fibrillin-1.
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Marfan syndrome,Genetic disorder,Fibrillin,Marfan's syndrome,range of topics today