Azoospermia and reciprocal translocations: should whole-exome sequencing be recommended?

ABSTRACT:

Background

Although chromosome rearrangements are responsible for spermatogenesis failure, their impact depends greatly on the chromosomes involved. At present, karyotyping and Y chromosome microdeletion screening are the first-line genetic tests for patients with non-obstructive azoospermia. Although it is generally acknowledged that X or Y chromosome rearrangements lead to meiotic arrest and thus rule out any chance of sperm retrieval after a testicular biopsy, we currently lack markers for the likelihood of testicular sperm extraction (TESE) in patients with other chromosome rearrangements.

Results

We investigated the use of a single nucleotide polymorphism comparative genome hybridization array (SNP-CGH) and whole-exome sequencing (WES) for two patients with non-obstruct

SUBMITTER: Ghieh F 

PROVIDER: S-EPMC8582189 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature