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Nevoid Basal Cell Carcinoma Syndrome: What You Need To Know
Inheritance Pattern of NBCCS
Nevoid basal cell carcinoma syndrome (NBCCS) follows an autosomal dominant pattern of inheritance. What does this mean? It means one copy of the altered gene in each cell is sufficient to cause the disorder.
You only need to inherit one abnormal gene from your parents for NBCCS. If you receive a normal gene from one parent and an altered gene from the other, you will have NBCCS. This pattern is what we call autosomal dominant inheritance.
Even if your parents don't show signs or symptoms, they can be carriers of NBCCS. Carriers are people who carry a disease-causing mutation without showing any signs themselves. In some cases, an affected person inherits the condition from a carrier parent but sometimes it might come about spontaneously - known as de novo mutations.
In conclusion, understanding the inheritance pattern of NBCCS helps us understand both its transmission and occurrence in families.
Related trials for Nevoid basal cell carcinoma syndrome and Down syndrome
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Preimplantation Genetic Diagnosis (PGD)
Preimplantation Genetic Diagnosis (PGD) is a medical procedure. It's done before implanting an embryo in the uterus during In-Vitro Fertilization (IVF). Doctors examine embryos for genetic defects. The goal: avoid passing on certain genetic diseases to children.
It starts with IVF. Eggs are retrieved from a woman's ovaries, then fertilized in a lab. Embryos develop for 3-5 days. Then, doctors remove some cells from each embryo for testing.
These tests look at the genes or chromosomes of embryos. They can identify many different genetic conditions such as Down syndrome or cystic fibrosis. After testing, only healthy embryos get transferred to the womb.
Remember, PGD isn't perfect—it doesn't guarantee pregnancy or catch all diseases—but it helps reduce risks significantly.
Additional Resources
Additional Resources
There are many resources available to aid you in understanding clinical trials. ClinicalTrials.gov is a key resource. It hosts a database of publicly and privately funded clinical trials conducted around the world. You can search by disease or condition, trial status, location and more.
Educational websites like MedlinePlus provide user-friendly information about health topics. They explain medical terms in plain language. Websites operated by patient advocacy groups often have links to relevant clinical trials too.
Books can be helpful as well. Titles such as "The Patient's Guide To Clinical Trials" offer comprehensive overviews of what to expect when participating in a trial.
Remember: research is power! Use these resources wisely and become an informed participant in your own healthcare journey.