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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 Iām 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 donāt 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 ānormalā 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 canāt decide if we should transfer one of these embryos with the micro deletion or not.
Would appreciate anyoneās thoughts or feedback.
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- 4 years ago
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