Other Forms of Chromosome Changes
Order ID:89JHGSJE83839 Style:APA/MLA/Harvard/Chicago Pages:5-10 Instructions:
Other Forms of Chromosome Changes
- Fragile-X syndrome causes the most common form of inherited mental retardation. What is the chromosomal abnormality associated with this disorder? What is the phenotype of this disorder?
- Melissa was referred for genetic counseling 16 weeks into her pregnancy because of a history of epileptic seizures. She was on medication (valproic acid) for her seizures and had not had a seizure in the last 3 years. Her obstetrician became concerned when he learned that she was still taking this medication, against his advice, during her pregnancy. He wanted her to speak to a genetic counselor about the possible effects of this medication on the developing fetus. The counselor took a detailed family history, which indicated that Melissa was the only family member with seizures and that no other genetic conditions were apparent in the family. The counselor asked Melissa why she continued to take valproic acid during her pregnancy. Melissa stated that she was “afraid my child would have epilepsy if she didn’t take her medicine.” Melissa went on to say that she was teased as a child when she had her “fits,” and she wanted to prevent that from happening to her children. With this in mind, the counselor reviewed the process of fetal development and why it is best that a physician carefully evaluate all medications that a woman takes while she is pregnant. Melissa’s medication has been shown to cause spina bifida, which affected almost twice as many children who were exposed to it than children who were not exposed. Using illustrations, the counselor explained that spina bifida is a defect that occurs when the neural tube fails to close completely during embryonic development. The failure to fold exposes part of the spinal area when an infant is born. Valproic acid could also cause problems in the heart and the genitals. The counselor explained that prenatal diagnosis using ultrasound, and possibly amniocentesis, could help determine whether the baby’s tube had closed properly. Postscript: Melissa elected to have an ultrasound, which showed that the baby did not have a neural tube defect. However, she was offered an amniocentesis to rule out a possible false negative result of the ultrasound. She declined the amniocentesis and delivered a healthy baby boy.
- As a genetic counselor, you have taken Melissa’s family history. How can you address Melissa’s fears that her child will develop epilepsy because she did?
- From the perspectives of genetics, is Melissa at greater risk for having a child with epilepsy than is someone without epilepsy?
- Women taking valproic acid have a 1% to 2% risk of having a child with a neural tube defect. Does the fact that Melissa had a normal child increase the risk that her next child will be affected? Why or why not?
- The neural tube forms and closes during the first trimester of pregnancy. What does this suggest about Melissa’s medication program in future pregnancies?
RUBRIC
Excellent Quality
95-100%
Introduction 45-41 points
The background and significance of the problem and a clear statement of the research purpose is provided. The search history is mentioned.
Literature Support
91-84 points
The background and significance of the problem and a clear statement of the research purpose is provided. The search history is mentioned.
Methodology
58-53 points
Content is well-organized with headings for each slide and bulleted lists to group related material as needed. Use of font, color, graphics, effects, etc. to enhance readability and presentation content is excellent. Length requirements of 10 slides/pages or less is met.
Average Score
50-85%
40-38 points
More depth/detail for the background and significance is needed, or the research detail is not clear. No search history information is provided.
83-76 points
Review of relevant theoretical literature is evident, but there is little integration of studies into concepts related to problem. Review is partially focused and organized. Supporting and opposing research are included. Summary of information presented is included. Conclusion may not contain a biblical integration.
52-49 points
Content is somewhat organized, but no structure is apparent. The use of font, color, graphics, effects, etc. is occasionally detracting to the presentation content. Length requirements may not be met.
Poor Quality
0-45%
37-1 points
The background and/or significance are missing. No search history information is provided.
75-1 points
Review of relevant theoretical literature is evident, but there is no integration of studies into concepts related to problem. Review is partially focused and organized. Supporting and opposing research are not included in the summary of information presented. Conclusion does not contain a biblical integration.
48-1 points
There is no clear or logical organizational structure. No logical sequence is apparent. The use of font, color, graphics, effects etc. is often detracting to the presentation content. Length requirements may not be met
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Other Forms of Chromosome Changes