Fig. 2.

Schematic view on extension of AZFb deletion in Yq11 of an infertile man with OAT syndrome (case ID: AZG189). a PCR multiplex assays used for analyses of AZFb Y gene deletions [16] indicated a partial AZFb deletion because the “classical” proximal and distal AZFb breakpoint regions were still present (sY1227: + ; sY1291: +). b Comparison of PCR amplification product intensities for PRY on the Y chromosome of male control (man with normal Y chromosome, 2 PRY genes, and normal fertility) and of AZG189 in B mix assay reveals that only one PRY gene copy is deleted. c Molecular sequence analyses of AZFb break-fusion site on the AZFG189 Y chromosome revealed non allelic homologous recombination event (NAHR) between two T_n tracts located in the spacer region of the two b5 amplicons and in the t1 amplicon distal to the first PRY gene copy. Molecular length of this AZFb deletion is 4.45 Mb. Using the genomic STS markers, sY105, sY121, sY127, sY134, sY143, sY153 (grey coloured in a) recommended by the EMQN/EAA best practice guidelines [17] this AZFb deletion would have been diagnosed as “classical” AZFb deletion. For further discussion see main-text