PT  - JOURNAL ARTICLE
AU  - D Pitt
AU  - M Leversha
AU  - C Sinfield
AU  - P Campbell
AU  - R Anderson
AU  - D Bryan
AU  - J Rogers
TI  - Tetraploidy in a liveborn infant with spina bifida and other anomalies.
AID  - 10.1136/jmg.18.4.309
DP  - 1981 Aug 01
TA  - Journal of Medical Genetics
PG  - 309--311
VI  - 18
IP  - 4
4099  - http://jmg.bmj.com/content/18/4/309.short
4100  - http://jmg.bmj.com/content/18/4/309.full
SO  - J Med Genet1981 Aug 01; 18
AB  - 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.