8q22-qter duplication in a child with multiple congenital malformations: case report

摘要

Background: Congenital malformation syndromes are often caused by unbalanced chromosome translocations, which appear spontaneously or may be inherited from a healthy parent being the carrier of a balanced reciprocal translocation (rcp). Breakpoints, underlying chromosome fragment exchanges, may be located at any point of any chromosome and therefore, an infinite number of different translocations is possible. Special emphasis is placed both on the clinical characterization of every rare chromosomal aberration syndrome and on the determination of its breakpoints.Background: Diagnosis of a 8q22γqter duplication in a child with multiple congenital malformations.Material/Methods: We determined the karytypes of the five members of proband's family were established by using classical cytogenetic methods on whole blood obtained by venipuncture.Results: We described a rare familial reciprocal translocation t(8; 14), observed in balanced form in mother and one healthy son, while being unbalanced in the son with congenital malformations.Conclusions: Balanced chromosome 8 aberration carriers should be aware of the procreation risks and need genetic counseling.