Hi,
We are interested in the DHRSX gene, located in the pseudoautosomal region of X/Y chromosomes and recently were contacted with a case of a heterozygous deletion encompassing Exon 2. There are two deletions of a similar size and location in SV v4.1: gnomAD ; gnomAD
These were called using various tools, but what caught our eye was: 1) the fact that there are homozygous deletions, unexpected in this very severe disorder; 2) there is a very strange sex distribution of these deletions. In one case 30/31 alleles are in XY individuals, essentially impossible by change, unless I am overlooking something biological. I wondered if there is a technical explanation for this e.g. miscalling in the PAR in certain cases?
Best wishes,
Matthew