Fig. 1.

Schematic Y chromosome structure and STS employed to detect deletions. a Schematic view of the Y-chromosome with pseudoautosomal regions (PAR) 1 and 2, palindromes 1–8, centromere, heterochromatin regions, inverted repeat IR and the chromosomal position of the DYS199 locus as depicted in Lange et al. [28]. b Expanded view of AZFs regions. c The AZFb and AZFc amplicon structure is drawn according to the color code of Kuroda-Kawaguchi et al. [27]. In (a) and (c) are shown the location of the principal STS and locus analyzed for the screening of AZFs microdeletion and AZFc partial deletions of the Y chromosome. d Exemplary results of PCR-based analysis in patients with AZFa, AZFb, AZFc or AZFb+c microdeletion. Black bar: STS/locus present. Lines: STS/locus absent. Gray lines: STS/locus that normally amplifies by PCR but assumed to be absent in the context of deletion pattern