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Personal genomics: His daughter's DNA

Nature volume 449, pages 773–776 (2007)Cite this article

Despite a training in clinical genetics, Hugh Rienhoff didn't know what was wrong with his daughter. So, as he tells Brendan Maher, he set about finding out.

Nearly four years ago, Hugh Rienhoff watched as his baby girl was pulled from a small incision in his wife's belly. It was their third child — the two boys had also been delivered by caesarean — and Rienhoff was there for all three births. But this child seemed different. He remembers her looking a little dark and sort of floppy, possibly attributable to the stress of delivery. Then he caught a glimpse of her feet, which were just a little longer than normal. For an instant, his training as a clinical geneticist kicked in. Could she have Marfan's syndrome?

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References

  1. Loeys, B. L. et al. Nature Genet. 37, "275–281":http://www.nature.com/uidfinder/10.1038/ng1511 (2005).

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Authors
  1. Brendan Maher
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Additional information

See Editorial, page 755 . Brendan Maher is a features editor at Nature.

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Human Genome Collection

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MyDaughtersdna.org

National Marfan Foundation

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Maher, B. Personal genomics: His daughter's DNA. Nature 449, 773–776 (2007). https://doi.org/10.1038/449773a

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