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Tetraploidy in a liveborn infant with spina bifida and other anomalies.
  1. D Pitt,
  2. M Leversha,
  3. C Sinfield,
  4. P Campbell,
  5. R Anderson,
  6. D Bryan,
  7. J Rogers


    Although tetraploidy of human chromosomes (92,XXYY) has been described frequently in abortuses, only one example in a liveborn infant has previously been described. A second malformed infant with a complete tetraploid chromosome complement, who lived for 15 days, is reported. In addition to many of the malformations described in the first case, this infant also had a sacral myelomeningocele and skeletal anomalies. The probable origin of the tetraploidy was a failure of cytoplasmic cleavage at the first mitotic division of the fertilised ovum.

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