Question
In your response to your peer's posts, locate a resource that may help address the clarifying question regarding the genetic topic in the initial post.
- In your response to your peer's posts, locate a resource that may help address the clarifying question regarding the genetic topic in the initial post. and give opinion about their topic
1. Down Syndrome
Down Syndrome is a genetic condition. The Known caused of Down Syndrome is an error in cell division that results of an extra copy of chromosome 21 known as trisomy 21. Instead of having two copy of chromosome 21, a third copy of chromosome 21 is present. According to Standford Medicine (2022), "It includes certain birth defects, learning problems, and facial features. A child with Down syndrome also may have heart defects and problems with vision and hearing." These condition ranges to mild to serious physical and development problems and this varies to child to child.
My Clarifying question is how do I identify how many stereoisomers exist in a compound?
2. I have chosen to research Marfan Syndrome. Marfan Syndrome is a genetic disease in which affected people will appear as tall and thin with very long extremities. This syndrome affects people in different ways, but it can cause problems with their heart, bone deformities, eye problems, collapsed lungs, or crooked teeth. Most symptoms and signs will not present until later in childhood or even adulthood. Marfan Syndrome is rare but it will affect 1 in 5000 people. An early diagnosis can mean the difference between life and death with Marfan Syndrome. Diagnosing Marfan Syndrome involves clinical and genetic testing. It usually starts with a blood test to detect any FBN1 changes. It is typically diagnosed in patients between the ages of 32-72 with age 46 being the average age for patients to be diagnosed with Marfan Syndrome. This genetic disease is caused by a gene mutation called FBN1. This genetic mutation deletes the genes that tell the body how to make fibrillin-1. Fibrillin-1 is an extracellular matrix glycoprotein that works as a structural component of calcium binding microfibrils. This mutation of FBN1 is a flaw in gene transcription. We know this because gene transcription is RNA copies of a DNA sequence and the FBN1 mutation is caused by DNA deletion.
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