【探索世界】基因外遺傳現(xiàn)象(12/30)
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Beckwith-Wiedemann syndrome
protruding
thighs
Karen
surgery
abdomen
tumors
Wolf Reik
embryo
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They couldn't say 100 percent that the baby did have Beckwith-Wiedemann syndrome. But, it was showing signs. They could see his tongue protruding on the scan. And he said the beast had very big thighs. But until Karen was actually born, we didn't know how severely affected it was going to be.
When Karen was born, it was clear he did indeed have Beckwith-Wiedemann syndrome.
Within a few hours of the birth, Karen had to have surgery to have the bowel that was on the outside of the abdomen basically put back inside repaired. Karen also had surgery to reduce the size of his tongue. And every few months, he has scans to check for tumors.
Cases of Beckwith-Wiedemann syndrome caught the attention of Wolf Reik. Wolf Reik worked in developmental genetics. He was fascinated by this emerging epigenetic ghost world. He wanted to know what could throw the switches on or off. To his surprise, he found that simply placing a mouse embryo in a culture dish could trigger genes to switch off.
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