A study focused on PHEPs and BWS demonstrated that PHEPs are inherited as an independent trait but there's still a type of linkage with BWS, possibly representing causal heterogeneity. Currently it is suspected that there might be an unknown site of mutation in the chromosome that causes the syndrome, and ear pits might be linked to that one instead, but that is yet to be probed.
I find this fascinating because my family possesses PHEPs and as of now, no one has been born with any of the syndromes, but I wonder if it could happen in future generations? Also, the ear pits were passed to every family member, from my grandfather all the way to my youngest cousin, except for me, perhaps I'm adopted.
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