I was hoping someone else would remember someone posting about a strange transfer of CF mutations in their family.... It was about 6 months ago or so (I've already used the search feature but no luck thusfar and I got a bit bored after about 120 old posts <img src="i/expressions/face-icon-small-smile.gif" border="0"> ).
MOM was not a carrier of ANY known mutation. Dad was a carrier of a common mutation (say Delta F 508). Baby was born, baby has CF. Baby has DOUBLE delta F 508. HOW CAN THIS BE????????????????? Something happend in utero and Chromosome 7 (where the CF mutation is) duplicated itself from dad into baby, and baby got 2 of dad's CF mutation chromosome 7's (even though dad only had one chromosome 7 with CF, rendering him JUST a carrier, it duplicated itself in the BABY so there were now 2) and the baby didn't get 1 of mom's chromosome 7's. So, the baby ends up with CF by a medical mystery in utero. Strange, but real.
Second case, similar situation. Mom is NOT a carrier of ANY known CF mutation. Dad is carrier of Delta F 508 and they have to use in vitro to get pregnant because dad has no sperm in ejaculate, but does not have CF (negative sweat test, only 1 mutation found). Baby is born, negative sweat test, has dads 1 mutation. Baby exhibits all sorts of CF symptoms, baby is tested again, sweat test negative, blood test negative. DR decides to re test dad with new, extended panel test because of male infertility factor. Dr gets results, Df508 and a rare newer mutation recently discovered. They test baby, the baby has both of dad's mutations and therefore CF. Similar thing happened in utero with this baby as with the previous case. Except, baby got both of dad's chromosome 7's (instead of the one with a CF mutation duplicating itself).
Does anyone recall these people posting?? I am trying to find the posts but I can't.
Thanks
MOM was not a carrier of ANY known mutation. Dad was a carrier of a common mutation (say Delta F 508). Baby was born, baby has CF. Baby has DOUBLE delta F 508. HOW CAN THIS BE????????????????? Something happend in utero and Chromosome 7 (where the CF mutation is) duplicated itself from dad into baby, and baby got 2 of dad's CF mutation chromosome 7's (even though dad only had one chromosome 7 with CF, rendering him JUST a carrier, it duplicated itself in the BABY so there were now 2) and the baby didn't get 1 of mom's chromosome 7's. So, the baby ends up with CF by a medical mystery in utero. Strange, but real.
Second case, similar situation. Mom is NOT a carrier of ANY known CF mutation. Dad is carrier of Delta F 508 and they have to use in vitro to get pregnant because dad has no sperm in ejaculate, but does not have CF (negative sweat test, only 1 mutation found). Baby is born, negative sweat test, has dads 1 mutation. Baby exhibits all sorts of CF symptoms, baby is tested again, sweat test negative, blood test negative. DR decides to re test dad with new, extended panel test because of male infertility factor. Dr gets results, Df508 and a rare newer mutation recently discovered. They test baby, the baby has both of dad's mutations and therefore CF. Similar thing happened in utero with this baby as with the previous case. Except, baby got both of dad's chromosome 7's (instead of the one with a CF mutation duplicating itself).
Does anyone recall these people posting?? I am trying to find the posts but I can't.
Thanks