Fragile X- Mental Retardation
Lisa Anderson, a 22 y.o., Caucasian single parent, is referred for genetic counseling by her pediatric Nurse Practitioner. She has a 3-year-old boy with developmental delay and small joint hyperextensibility. The pediatric Nurse Practitioner has diagnosed fragile X-associated mental retardation. She is currently pregnant with her second child at 14 weeks of gestation. The family history is unremarkable. Please use the following headings/subheadings as a guide to draft your paper: Introduction (including a brief purpose statement) Identify the genetic mutation responsible for fragile X-associated mental retardation. Describe and discuss how it causes the clinical syndrome of developmental delay, joint hyperextensibility, large testes, and facial abnormalities. Identify which parent is the probable carrier of the genetic mutation? Explain why this parent and the grandparents are phenotypically unaffected. Discuss the likelihood that the unborn child will be affected? VII. Conclusion textbook-Hammer, G. & McPhee, S. (2019). Pathophysiology of disease: An introduction to clinical medicine (8th ed.). New York, NY: McGraw-Hill Education / Medical.
