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Case Reports
. 1981 Aug;18(4):309-11.
doi: 10.1136/jmg.18.4.309.

Tetraploidy in a liveborn infant with spina bifida and other anomalies

D Pitt, M Leversha, C Sinfield, P Campbell, R Anderson, D Bryan, J Rogers
Case Reports

Tetraploidy in a liveborn infant with spina bifida and other anomalies

D Pitt et al. J Med Genet. 1981 Aug.

Abstract

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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References

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