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Any geneticists heard of a 2p21 microdeletion?
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My husband and I recently discovered that I am a carrier for a 2p21 micro deletion.

Apparently this means that I am missing my entire SIX2 gene. I have no facial dysmorphism, no hearing issues, and no intellectual delays (that Iā€™m aware of presently).

At some point the geneticist working with us told me that she has never met anyone with a micro deletion who had received a post-graduate degree; however, I have a PhD in physics, and currently work as an engineer, and I am only one person, so I donā€™t believe that this theory holds water.

I am providing this backstory because my husband and I recently completed an IVF cycle and all of our embryos that were ā€œnormalā€ after chromosome testing were also carriers of this micro deletion.

Part of me is suspicious of the literature on this micro deletion. From what I can tell, it seems like there have been so few reported cases, in so few reported families, that the cases reported could be a question of correlation rather than causation, especially in light of the fact that I have none of the physical or intellectual markers associated with this deletion.

Does anyone have more information about this?

We canā€™t decide if we should transfer one of these embryos with the micro deletion or not.

Would appreciate anyoneā€™s thoughts or feedback.

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4 years ago