Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH

摘要: Insertions occur when a segment of one chromosome is translocated and inserted into new region the same or non-homologous chromosome. We report 71 cases with unbalanced insertions identified using array CGH FISH in 4909 referred to our laboratory for found have copy-number abnormalities. Although majority were non-recurrent, several recurrent detected, including three der(Y)ins(Y;18)(q?11.2;p11.32p11.32)pat inherited from parents carrying an insertion. The clinical significance these rearrangements unclear, although small size, limited gene content, inheritance pattern each suggests that phenotypic consequences may be benign. Cryptic, submicroscopic duplications observed at near insertion sites two patients, further confounding interpretation insertions. Using FISH, linear amplification, CGH, we 126-kb duplicated 19p13.3 MECP2 Xq28 patient symptoms Rett syndrome. Our results demonstrate most non-recurrent unclear without high-resolution site characterization, potential otherwise benign duplication result clinically relevant outcome through disruption necessitates use determine whether gains detected by represent tandem Further follow-up testing techniques such as amplification sequencing should used involvement after has presence