Inherited partial trisomy 8q (22 leads to qter)
P. L. Townes and M. R. White
We report clinical observations and cytogenetic studies of an inherited
form of partial trisomy 8q. Although complete trisomy 8 has in recent years
proven to be a clinically recognizable syndrome, partial trisomy 8q has
been documented in only six individuals. Of these, five were familial and
also partially trisomic for chromosome 22. There has been only one prior
report of partial trisomy 8q without partial trisomy 22. Review of these
cases provides support for the recent suggestion that the phenotype of
trisomy 8 may be caused principally by trisomy of the distal segment of 8q.
