Topics

CF-gene
I have a half-sister, she has been diagnosed with one CF-gene. As I did not know here up to now, I fear, that my son as nephew resp. half-nephew also carries that gene. Is there a probability for this? My sister and me we have the same father, but not the mother??!! Thank you
02.07.2009
Course of borderline-CF
Dear expert team, for just another time I have a question for you: My daughter, nearly 5, mutations R116X/R1048G did up to now have only slight problems with her CF. This winter she has had infections more often, which had to be treated with altogether 6 antibiotic therapies. At the half-year ...
30.06.2009
Heterozygous state
Dear ladies and gentlemen, I 34 (female) as well as my daughter 7 suffer from CF. My question, in my son (14), CF has been exculded 2 times but why is it written in a doctor's letter (gastroenterologist) "We would recommend additionally a renewed genetic counselling to exclude a ...
25.06.2009
Hyperechogenic fetal bowel
Good evening. I am 22 weeks pregnant and during the routine ultrasonograph the doctor diagnosed hyperechogenic fetal bowel. Without having any positive family history I have been checked at Laiko Hospital, Athens for the 75% of possible cystic fibrosis mutations and the results were negative. How ...
22.06.2009
CFTR gene
Hello, in my husband, the CFTR-mutation R553X has been diagnosed heterozygous. In order to exclude a CF at our daughter, a sequence analysis of the CFTR gene had been done to her. The CFTR-mutation p.R553X has been detected heterozyogous, a second mutation could not be detected fortunately. ...
08.06.2009
Heredity
My grandparents had 6 children in total, 3 boys and 3 girls. All 3 girls died shortly after birth (max. 3 weeks). My grandmother cannot tell me how these children died, but ‘something was said about an enlarged pancreas’, and it was also said that it was only by chance that all 3 girls had ...
03.06.2009
Heredity
My son is going to have a child. He does not have CF, but has a younger brother with CF. How can he find out if he is a carrier?
03.06.2009
Mutations R1162X/R1048G Wish to have another child
My husband and I have a four-year-old daughter who inherited our mutations and suffers from a mild form of cystic fibrosis. She has lung infections quite often and the experts cannot give us any information about the course of the disease. My husband and I would like to have a second child. The ...
26.05.2009
CF excluded but a mutation R117H
Dear ladies and gentlemen, I am 33 years old with CF, my daughter is 7 years old with CF and my son is 14 years old. To him, a CF had been excluded via potential difference/ molecular genetic / sweat test in two different hospitals. But my son ought to be affected by a not-known mutation and he ...
26.05.2009
CF - prenatal diagnostics
Is it possible to diagnose CF in an embryo or by prenatal examinations?
23.04.2009
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