ABSTRACT
Duplications of 3p and deletions of 9p occurring separately are well
described; however, there are few reports of individuals with unbalanced
translocations resulting in both of these chromosomal abnormalities
together. Here we report two siblings with the same unbalanced male
karyotype, with a duplication of distal 3p and a deletion of distal 9p,
due to adjacent segregation of a balanced reciprocal translocation
inherited from their father. Although the siblings have the same
karyotype of 46,XY,der(9)t(3;9)(p25.1;p24.3)pat, they demonstrate
different phenotypes, particularly in sex development. This sibling pair
further delineates cases with unbalanced translocations and disorders of
sex development.