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Keywords
- ABPA_Aspergillus
- accompanying diseases
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Topics
- Symptoms of rare mutations in our baby
- My husband and I are both carriers of a CF mutation and I'm pregnant. We were told, there is a 25% chance that our baby could inherit our two mutations and we want to know what symptoms the child may have if this is the case. My F508del mutation is common (with R668C variant, which should not be ...
- 01.08.2015
- Amniocentesis
- Is always tested for CF when doing an amniocentesis [In Germany]?
- 28.07.2015
- Can one sibling have an atypical CF and one sibling a classical one?
- Dear ladies and gentlemen, we have 2 sons, the older one is 2.5 years old, the younger one is 5 months old. Our older son has a massive failure to thrive, he weighs with his 2.5 years only 9 kg. As he is a former prenatal baby with a half-side paresis, the physicians thought the reason for this ...
- 19.07.2015
- Only mother is carrier, is CF now excluded?
- At the 20-weeks ultrasound echodense intestines were seen. Research has been done whether my partner or myself have the CF mutation. Yesterday, after 2 weeks of uncertainty, we had the reassuring call. I indeed seem to be a carrier and my partner not. As I understand CF is now excluded, but they ...
- 19.07.2015
- Intron 8 7t/7t Exon 13 D727y
- Dear Sir or Madam, My 10-year-old daughter (CF) was tested in 2009 because she often had abdominal pain with diarrhea and also respiratory infections and bronchitis. Our pediatrician sent us to the CF outpatient department of the University Hospital Leipzig [Germany]. A sweat test was done ...
- 07.07.2015
- Μutation combined with polymorphism
- I am 14 weeks pregnant and I have a 4 year old son. During the genetic testing I was examined for 90% of the CF mutations and I was found to carry: c.1584+12T>C (rs193922502), along with the non pathological polymorphisms p.V470M (rs213950,c.1408G>A). My husband was detected to carry the ...
- 12.06.2015
- polymporphisms and mutations
- I would like to ask what is the difference between a polymorphism and a mutation. Can a polymorphism, or a mutation, cause CF on their own? Can a person have more than 2 polymorphisms or mutations? Thank you!
- 12.06.2015
- Detection of CF at a later age
- Recently, a mother with CF stated that she did not know she had CF before she was pregnant. I was glad for her, but, on the other hand, I got worried. I have a child with CF (pancreatic symptoms) and other children, that have not been tested (the doctor told me to have them tested for carrying a CF ...
- 12.06.2015
- Heterozygote 621+1G>T and F508del
- My daughter carries the mutations 621+1G>T and F508del. How serious is her condition?
- 12.06.2015
- Phenotype associated to Genotype F508del / 3849+10 kbCT
- Hello I am 5 months pregnant. My husband has got the F508del gene, and I'm carrying the 3849 + 10 kb CT. With 1/4 chance to transmit CF, I would like to know the clinical features. Best Regards
- 07.06.2015
