Curiosity about Klinefelter syndrome

Question

[martyferr90]

Hi all! I have a question: anyone of you use the NGS analysis for detect Klinefelter syndrome? Is there any bioinformatic tools for this kind of analysis?

Thank you all! :3

[WouterDeCoster]

Klinefelter can be identified using RNA-seq, and checking expression of XIST and some Y-chromosome genes. I found someone with Klinefelter using lexogen quantseq (by coincidence, when checking the gender of the individuals).

Answer 1

[JC]

Not directly for this, but a good QC in any genomic pipeline is to check chromosome coverages or regions with high-mutation rates reporting when something is far from the standards.

Answer 2

[martyferr90]

So a CNV analysis with an appropriate reference set could work? Actually a patient with a Klinefelter syndrome must have many reads in X chromosome and a normal reads distribution in Y one, right?