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Doctor insights on: Cystic Fibrosis Mutation

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Will cystic fibrosis mutation test detect Down syndrome during pregnancy?

Will cystic fibrosis mutation test detect Down syndrome during pregnancy?

Separate study: If you are having the one study done it is simple enough to arrange for the other study at the same time. They are separate tests and often done at a separate lab. ...Read more

Mutation (Definition)

In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more


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Cystic fibrosis - mutations/abnormal cell growth, could treatment be related to the cause of cf?

Cystic fibrosis - mutations/abnormal cell growth, could treatment be related to the cause of cf?

Confusing question: Your question is unclear. CF is caused by a mutation that is expressed as an autosomal recessive genetic disorder. What your question about it is vague at best.Please start over and be specific about what you are asking.Questions are not linked, so start over. ...Read more

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Newborn boy has a severe mutation delf508 and a 5-t gt12. Was told that he might or might not develop mild cystic fibrosis. How does mild CF manifest?

Varies: Mild CF can vary from recurrent sinus infections, recurrent pneumonia, pancreatitis, fertility problems. One may have no evidence of CF until adulthood. Sometimes the first sign is recurrent pancreatitis in the second or third decade of life. Usually growth is not impaired. ...Read more

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Does a child have to inherit the same mutation from both parents in order to have cystic fibrosis?

Does a child have to inherit the same mutation from both parents in order to have cystic fibrosis?

NO: Over 2, 000 mutations in the cftr gene are known which may cause cystic fibrosis. A child must inherit one mutation from each parent to have cystic fibrosis. ...Read more

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Does my child have to inherit the same exact mutation from both parents in order to develop cystic fibrosis?

Does my child have to inherit the same exact mutation from both parents in order to develop cystic fibrosis?

No: You need 2 mutations to inherit cf, but they can be, and often are, 2 different mutations. The type of mutation can have an impact on the severity of the disease and the child's prognosis. ...Read more

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How can cystic fibrosis affect p.I.E.S development?

Certainly: Cystic Fibrosis (CF) most common life-limiting genetic disorder of Caucasians, affecting approximately 30K people in the US.A, impacting mainly respiratory function. In recent years patients symptoms better controlled by genetic findings and better medications.Emotional & phys. development depend on severity, time in hospital, complications.Morb. & mort.factors afect emotional,cognitive behavior. ...Read more

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Can someone be diagnose with cystic fibrosis in their 40's?

Can someone be diagnose with cystic fibrosis in their 40's?

As a carrier: Genetic carrier testing: more than 10 million americans are symptomless carriers of the defective CF gene. This blood test can help detect carriers, who could pass CF onto their children. To have cystic fibrosis, a child must inherit one copy of the defective CF gene from each parent. ...Read more

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I have symptoms of cystic fibrosis. Is it possible to start show the symptoms in my 30's?

Yes: Yes it is possible. Presentation of cystic fibrosis varies greatly, and it is possible, depending on your specific mutation (and other factors) to present at a later age. In order to prevent late diagnoses, all states now have a newborn screen in place for cystic fibrosis. ...Read more

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I have family members with cystic fibrosis. Is it possible to start show the symptoms in my 20's?

I have family members with cystic fibrosis. Is it possible to start show the symptoms in my 20's?

Yes: However, usually an adult who is diagnosed so late has usually had chronic problems with cough and "pneumonias". That said i've diagnosed a new case in a 38 year old woman. ...Read more

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Dr. William Walsh
981 doctors shared insights

Cystic Fibrosis (Definition)

Cystic fibrosis is a genetic disorder of the lungs and digestive tract. It causes recurrent lung infections and inhibits growth in patients. Average life expectancy of patients with cystic fibrosis ...Read more