Question

A woman brings her six-year old daughter into clinic because she has just learned that her nephew has fragile X syndrome. The daughter is in kindergarten and is doing well with no learning or behavioral concerns. The mother requests genetic testing for her daughter to "make sure she doesn't have fragile X." What information does the clinician need to address this mother's request? Is the standard test for fragile Xa chromosome, biochemical, or molecular test? Do you consider this to be a carrier, diagnostic, or predisposition genetic test? Explain your answer.

can you please answer this question too?

Answer 1

A woman brings her six-year old daughter into clinic because she has just learned that her nephew has fragile X syndrome. The daughter is in kindergarten and is doing well with no learning or behavioral concerns. The mother requests genetic testing for her daughter to make sure she doesn't have fragile X." | What information does the clinician need to address this mother's request? Fragile X syndrome is a genetic disease caused due to mutations in the FMR1 (fragile X mental retardation 1) gene. Its inheritance pattern is X-linked dominant. The FMR1 codes for FMR1 protein, which is necessary for the synthesis of other proteins involved in synaptic development. Synapses are the neural connections necessary for the transmission of information between neurons. As it is an X-linked dominant inheritance pattern, atleast any one of the parent exhibit the symptoms. Females generally exhibit less symptoms as they carry two X chromosomes. So, they typically act as carriers. So, the clinician need to ask about the history of Fragile X syndrome symptoms in the child's parents and grand parents. Is the standard test for fragile X a chromosome, biochemical, or molecular test? The standard test for fragile X syndrome is molecular as it affects the genes. Do you consider this to be a carrier, diagnostic, or predisposition genetic test? Explain your answer. It is a carrier genetic test as the mother's nephew had fragile X-syndrome. If the mother is a carrier for fragile X-syndrome, the female daughter may also develop the symptoms of this disease.