Friday 14 October 2011

Finally, a reason WHY

The chromosome test DID come up with something. It’s a new test, called array CGH, and it turned out that both boys had something called an unbalanced translocation of chromosome 6 & 9. The geneticist rang to let me know. I was SO relieved. We finally had a reason for our three-year nightmare.


So what is an unbalanced translocation? We each have 23 pairs of chromosomes, one set from our mother and one set from our father. In our babies’ cases, bits of chromosomes 6 and 9 had broken off and swapped places. But one boy ended up getting too much of chromosome 6 and not enough of chromosome 9, and the other boy had the opposite problem, too much of chromosome 9 and not enough of chromosome 6. They found the problem first in our second baby, and they then tested tissue they had kept from our first baby’s 2009 post mortem, and this showed the same issue. Because that both boys had the same issue, this meant that either myself or my husband had a balanced translocation of chromosomes 6 and 9.


And we have just found out that it is me.

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