Cri du Chat Syndrome

  1. 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?
  2. How is the disorder inherited? Be specific in terms of gene mutations, chromosomal abnormalities, environmental factors, etc.
  3. How is the disorder diagnosed? Be specific in terms of biological tests, imaging, physical examination, etc.
  4. Are there varying forms of the disorder and if so, how do they differ in terms of severity, etiology and inheritance?
  5. What are the implications for genetic counseling, specifically:
    1. Risk to first degree relatives (siblings, children)
    2. What carrier and/or prenatal screening/diagnosis is available, including benefits and limitations?
  6. 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: