A complex rearrangement, including a deleted 8q, in a case of Langer-Giedion syndrome

Abstract

A 10-month-old infant with failure to thrive, delayed development, mild dysmorphia, cardiac anomalies, and cryptorchidism was referred for cytogenetic evaluation. Routine GTG-banded analysis revealed a modal number of 46 chromosomes, which contained an obvious complex rearrangement involving chromosomes 1, 8, and 14. Parental chromosomes were normal. Following high resolution techniques, this de novo rearrangement demonstrated an intraband deletion and was designated as [46,XY,t(1;8;14)(1pter----1p13.1::14q12----14pter++ +;1qter----1p13.1::8q24.13----8qter; 14qter----14q12::8p23.3----8q24.11:)]. Although deletions have been implicated as possibly responsible for abnormal phenotypes in patients with de novo "balanced rearrangements", in most cases, they could not be demonstrated. The present case is only the second instance documenting a subtle intraband deletion in association with a complex translocation. Fourteen of the reported 18 patients with an 8q deletion (including this infant) have Langer-Giedion syndrome, suggesting an etiologic relationship. However, the same deletion is not present in all cases.