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22q11.2 duplication

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Frock23 · 03/03/2021 23:55

Hello, I wondered if anyone has any information on 22q11.2 duplication. We got sent for extra testing after our baby scan showed the NT measurement to be above average. After testing we discovered our baby has 22q11.2 duplication. We understand that it’s a small duplication of a gene and we’re seeing a specialist this week. It would be great to hear of any other parents that have experience of this as we know it’s very rare. It’s very worrying as we don’t have much information at the moment. Appreciate any feedback :-)

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