Topics

Screening
Hello, I am 30 years old and 3 months pregnant. My doctor advised me to check for DF508 together with Papp-A. I understand that this is one of many mutations. There is no history of CF in my or my spouse’s side of the family. Do you believe that the screening should involve a complete check (the ...
06.12.2010
dele 2,3 / e822X
dele 2,3 / e822X
22.11.2010
Proof of genetic deficiency in parents
Hello, My son is suspected to have CF and is currently being tested accordingly. Since my partner and I are separated, unfortunately I do not have any more detailed information on actual test results from the mother, as she has cut ties with me. I would like to ask anyway whether it is possible ...
15.11.2010
Can carriers of the CF gene can also have CF-like complaints ?
My daughter has serious lung problems and after many tests the conclusion is that she does no suffer from cystic fibrosis, but my daughter is a carrier. Can this contribute to her lung problems or is it not part of it ?
05.10.2010
CF
Our son and daughter-in-law recently had a child with CF. My family is wondering whether it would be sensible that I (grandmother) would investigate whether I’m carrier of the defective gen. They think that by doing so we can avoid further investigations in our large family.
04.10.2010
Lactose intolerance 2
Dear Dr. Posselt, I thank you very much for your extended answer. Now I can probably better understand why my test results have been negative. Of course I have to take many drugs against an organ-rejection. Also the intake of antibiotics, especially Ciprofloxacin, is frequent, in case an ...
21.09.2010
Cystic Fibrosis and pancreas
I just found out that I a am carrier of the disease. I have a 9 months old baby and I would like to know if there are any symptoms from which I can see if my baby has the disease?
14.09.2010
exon 13 sequence variant D727Y
Hello, in my daughter, the mutation exon 13 D727Y has been diagnosed heterozygously and in intron 8 the 7T-allel homozygously. Does that have any consequences? There are mutations however, which are not known already and not detectable. Is this CF or not? I would very much like to know if she ...
16.09.2010
Genotype in CF
My two grandsons (one 18 months, the other 4 years) have CF with genotype F508del (egzon 10) and S466X (egzon 10) in CFTR gen. Can you tell me to which class of mutation belongs S466X and what are the prognosis for the children with this genotype.
14.09.2010
genetics question
My daughter was found at age three (she is now nine years old) to have the mutations F508 and 711 3a G. At time she has not experienced any significant lung involvement ( a few episodes of bronchitis) and she is pancreatic sufficient. I would like to ask what is the phenotype and the relative ...
14.09.2010
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