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.