We have arrayCGH (aCGH) results for one sample. There is a 0.5 Mb terminal duplication on chromosome 19 (62995490-63407936, according to NCBI36/hg18). The duplication is rare: a literature review suggests there are only 3-4 samples with clinical information.
What are the steps to validate the results? How do we ascertain that this duplication is the cause of the clinical symptoms?
I have some ideas:
- aCGH the parents. Not sure how this would help.
- whole genome exome sequencing. Worried this might make it more difficult to pinpoint genetic cause.
- whole genome sequencing?
- other ideas?
Note: I am new to aCGH and high-throughput sequencing, any advice is welcome.