L. A Case Study

A twenty-two-year-old single parent, L.A., is referred for genetic counseling by her pediatric nurse practitioner. The patient's three-year-old son was diagnosed with fragile-X-associated mental retardation syndrome. L.A. is currently at fourteen weeks’ gestation with her second pregnancy. The following paper will discuss the gene mutation responsible for fragile-S associated mental retardation and describe how it causes the clinical syndrome of developmental delay, joint hyperextensibility, large testes, and facial abnormalities. This paper will also identify which parent is the probable carrier of the genetic mutation, discuss why the parent and grandparents are phenotypically unaffected and the likelihood that L.A.’s unborn child will be affected.
Genetic Mutation Fragile-X-associated mental retardation syndrome is a syndrome distinguished by a cytogenetic mutation of the X chromosome with repeat expansion of cytosine-guanine-guanine (CGG) on the FMR1 gene …show more content…
If her unborn child is a girl, there is a much lower chance she will be affected by the syndrome, but she could be a carrier. Genetic counseling and testing are appropriate to determine the significance for this family.
Summary
Fragile-X-associated mental retardation syndrome is a genetic X-linked syndrome affecting both male and females. Characteristics such as facial abnormalities, joint hyperextensibility, large testes, and developmental delay are the commonalities. Cytogenic mutation with overexpression of CGG causes the fragility of the area on the X chromosome. L.A. is the carrier of a premutation of fragile-X, which her son inherited leading to his diagnosis of fragile-X-associated mental retardation. The chances of her unborn child having fragile-X depend upon the child’s