A balanced translocation results in no gain or loss of material, while an unbalanced translocation may result in trisomy or monosomy of a particular chromosome segment.
An unbalanced translocation between chromosomes 2p and 6p associated with Axenfeld-Rieger anomaly type 3, hearing loss, developmental delay, and distinct facial dysmorphism.
FISH and chromosome 17 painting, however, demonstrated that the abnormal chromosome 17 was actually formed through an unbalanced translocation involving two copies of chromosome 17, with breakpoints at p12 and q11-1, an explanation which reconciled the cytogenetic and LOH findings.
Based on the paint result an unbalanced translocation was suspected.
With aCGH, it was concluded that it resulted from an unbalanced translocation der(1 t(1 t)(q42.3;p1 t1 t
The unbalanced translocation breakpoint was 30 Kb centromeric to the 3' end of RUNX1 suggesting a possible double event.
The H9 cells, on the other hand, showed an abnormal karyotype characterized by the presence of an unbalanced translocation involving chromosomes 17 and 21 (supplementary Figure S1).
FISH studies showed a distal 21q unbalanced translocation on an unidentified chromosome in addition to the classic t(8 21) derivatives.
In this case report we present the detailed clinical and molecular cytogenetic analysis of a low-mosaic unbalanced translocation (5 12) identified in a complex-CDH patient.
Because the suspicion of an unbalanced translocation persisted, yet not confirmed by MLPA on uncultured cells, a whole genome SNP array was applied.
In this paper we present the detailed clinical and cytogenetic analysis of a prenatally detected complex Congenital Diaphragmatic Hernia (CDH) patient with a mosaic unbalanced translocation (5 12).
