RT Journal Article
SR Electronic
T1 Tetraploidy in a liveborn infant with spina bifida and other anomalies.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 309
OP 311
DO 10.1136/jmg.18.4.309
VO 18
IS 4
A1 D Pitt
A1 M Leversha
A1 C Sinfield
A1 P Campbell
A1 R Anderson
A1 D Bryan
A1 J Rogers
YR 1981
UL http://jmg.bmj.com/content/18/4/309.abstract
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.