meiosis and inheritance

Part 4: Genetic Disorders

Select one of the disorders below or let me know if there is another one that you know about and would like to do but, it must be strictly genetic and inherited: Adrenoleukodystrophy, Albinism- oculocutaneous, Alzheimer Disease, familial, type 5, Angleman Syndrome, Burkitt’s Lymphoma, Cat Eye Syndrome, Cri-du-chat (Cat’s Cry Syndrome), Cystic Fibrosis, DiGeorge Syndrome, Duchenne Muscular Dystrophy, Edwards Syndrome, Fabry Disease, Huntington’s Disease, Jacobson Syndrome, Marfan Syndrome, Maple Syrup Urine Disease (MSUD), Monsomy 9p or Alfi’s Syndrome, Mytonic Dystrophy (Steinert Disease), Neurofibromatosis, Patau Syndrome or Trisomy 13, Prader-Willi Syndrome, Rentinitis pigementosa, Rett Syndrome, Sickle Cell Anemia, Smith-Magenis Syndrome, Von Hippel-Lindau Syndrome, Wolrf Hirschhorn Syndrome

Possible Internet Resources (feel free to find other sites): Online Mendelian Inheritance in Man Center for Disease Control Genetic Information, International Birth Defects Information Systems, National Center for Biotechnology Information, Genetic Alliance, Howard Hughes Medical Institute, National Institute of Health Office of Rare Diseases, Genetics Education Center, University of Utah Learn Genetics

Disorder selected

A picture of the abnormal chromosome or karyotype with location (loci) of gene clearly marked on image

Odds of having this disorder (ex: 1% chance or 1/100,000)

Name of gene or protein coded for by gene

Symptoms of disorder

Complications associated with disorder

Type of inheritance (sex-linked, autosomal dominant, autosomal recessive, etc.) or De novo (a new mutation)

Treatment (care, cure, prevention, if any)

Current Research (less than five years old) – List the organization or institution doing the research and briefly describe the work being done.

Two other interesting facts that you learned

A minimum of 2 sources in APA or MLA format

Part 5: Sex Verification

Complete the Click and Learn  

Using the information you learned in the click and learn and two additional resources (use APA citation), address the issue: A baby is born with ambiguous genitals. You will take on the role as the physician in charge what course of care do you recommend to the parents. 

Address atleast three of the different strategies/testing mechanisms discussed in the click and learn and how they may or may not assist in sex determination.

Identify possible ethical, logical, and/or cultural dimensions that are associated with each of the strategies you identified above and assigning a sex at birth. 

After identifying one of the above mechanisms, evaluate the mechanism’s possible impact by identifying atleast three pros and cons for that particular solution. 

After you list the pros and cons, reflect on your decision-making process and identify several pieces of key information that would have been helpful for you to know to make an informed decision