I just found out yesterday that my nephew ( and his mother ) have a benign genetic abnormality called a balanced 13/14 Robertsonian translocation.
My understanding - highly simplified - is that the ends of chromosomes 13 and 14 are fused together. This doesn’t cause any physiological problems since all the genes are there ( hence the “balanced” designation ), even if they aren’t in the “right” place. The primary concerns are reproductive, as it is associated with a higher rate of infertility, miscarriages and birth defects. My nephew and his wife will have to make some difficult decisions down the road, as they both want more children.
I know a little bit about genetics and I understand this. But there is something more subtle that she alluded to, and I haven’t been able to find clarification online.
She seemed to indicate that the condition could still cause some issues in my grandnephew other than fertility, although she was vague about the nature of these possible issues.
In reading more about the condition, it seems that chromosome 13 and 14 have a short arm and a long arm, and when the long arms are fused, the material on the short arm is lost. Most of the online resources I’ve found hand waved that away, saying that there is “nothing important” on the short arms of chromosome 13 and 14. I’m not sure what they mean by this, is it that there are no genes on the short arms of the chromosomes? Or just genes deemed “unimportant”? I’m not even sure what “important” means in this context.
I guess I’m looking for more information of the possible implications of this condition beyond fertility issues. Is there a geneticist in the house?