Balanced translocation - does it mean the baby is viable?
My wife has a non-robertsonian balanced translocation between chrom. 16 and chrom. 22. We've had one baby naturally so far and she is fine, actually with no translocation at all.
I've heard that recent research shows that even balanced translocations can have drammatic influence on the baby's condition and phenotype, even if the baby has exactly the very same karyotype as the mother. This is a bit scary.
Using the detailed karyotype of my wife, is it possible to determine if a second baby could potentially have problems if it had the same BT as my wife?
Is it possible to test her blood further so that we know if a baby with balanced translocation would be "viable"?
Obviously, you have been to genetic testing if you know your wife's karyotype. Your genetics counselor or doctor is the place to ask your questions about your wife's particular balanced translocation and possible future children! The Internet is not the place to bet your future childbearing years on. And yes, a balanced translocation can show up as an unbalanced translocation in the child. It is the unbalanced translocation that causes potential and probable medical issues, not the balanced translocation. However, children with genetic disabilities are a gift. They are not something to be afraid of or to be discarded as being inferior or "wrong". These children are "perfect" if you can see them through the eyes of how God looks at us all and I can tell you first hand that you would be very blessed to have one of these children!
I had read recent research papers a bit too fast. They actually do not establish a direct link between the translocation and phenotypical anomalies. Translocations do not seem to be too huge of a concern when inherited and when parents are fine.
"Translocations do not seem to be too huge of a concern when inherited and when parents are fine."
YES, they can be for the child. In fact, they can be severe and life altering. What I said was that if the child inherits your balanced translocation in the form of an unbalanced translocation, that is when there are problems. If the child inherits a balanced translocation you might not even know. Your wife is proof of that.
Many of these unbalanced translocation rearrangements are very rare and you may not even find them reported in the medical literature nor anyone else on earth like your child. Then again, your child may inherit the balanced translocation and be fine. I am not familiar with a 16;22 translocation phenotype.
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