【探索世界】基因外遗传现象(11/30)
Hints:
inheritance
DNA
Stephanie
Emend Mullins
Karen
Charlotte
IVF
the UK
exomphalos
em(语气词)
abdomen
Beckwith-Wiedemann syndrome
If inheritance was not just about DNA, if these gene switches were so important, just what could turn them on or off? Stephanie and Emend Mullins have two children, Karen and Charlotte.
When we were trying to conceive, and you see all your friends around you, getting pregnant, having children. As each month went on, you become more and more desperate.
Doctors recommended IVF treatment. In the UK alone, around 8,000 babies are conceived every year using assisted reproduction techniques, like IVF. After the third attempt, Stephanie became pregnant with Karen.
At the time, they, they didn't really highlight any risks to us. And then we went for a routine scan. And I did feel that the scan was taking an awful long time. Basically what they'd found was something called exomphalos, em, on Karen's abdomen which basically means that part of the bowel is still on the outside of the abdomen.
Doctor suspected that Karen might be suffering from Beckwith-Wiedemann syndrome, a rare condition where babies are born very large, often have oversized tongues and have a high risk of developing childhood cancers.
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