Clinical diagnosis of partial duplication 7q

Publisher Website
Google Scholar
Abstract
We report on two sibs with partial dup (7q), a retarded 9‐month‐old boy and an aborted fetus of 17 weeks' gestational age. Besides minor anomalies, the boy had frontal bossing, macrocephaly with hydrocephaly, a high forehead, and a large fontanelle. GTG banded chromosomes showed a 14p+ abnormality. Because his mother carries a balanced, de novo translocation with a breakpoint in band 7q33, the boy has a duplication of the distal portion of band 7q33 and the segment 7q34 qter. Our findings suggest that the phenotype in terminal duplications of 7q may, in some patients, be recognized clinically.