Cri du Chat Syndrome
- What is the disorder and how/when/by whom was it discovered? What are the primary and secondary symptoms of the disorder, both at the time of diagnosis and potential long-term health outcomes with and without treatment, if available?
- How is the disorder inherited? Be specific in terms of gene mutations, chromosomal abnormalities, environmental factors, etc.
- How is the disorder diagnosed? Be specific in terms of biological tests, imaging, physical examination, etc.
- Are there varying forms of the disorder and if so, how do they differ in terms of severity, etiology and inheritance?
- What are the implications for genetic counseling, specifically:
- Risk to first degree relatives (siblings, children)
- What carrier and/or prenatal screening/diagnosis is available, including benefits and limitations?
- What is the current research regarding the disorder in terms of diagnosis, treatment, and/or prevention? This section will be based upon at least 4 research articles used for the paper.
The paper must be in APA format, double-spaced, 12 pt font with 1 inch margins, and 5 pages in length, not including title page and references, and address the following questions: