Perinatal diagnosis of an unbalanced 46, XY, der(10)t(6;10)(p22;q26.1)
translocation with multiple malformations: A case report and literature
review
Abstract
Phenotype of an unbalanced translocation is characterized by mutations
in the translocated chromosome. We present the case of a fetus with a
paternally derived unbalanced 46, XY, der(10)t(6;10)(p22;q26.1)
translocation, detected following growth retardation and cardiac
malformation. Our findings expand the known spectrum of unbalanced
translocations for improved clinical management.