Table 1

 Phenotype of patients and controls bearing gr/gr and *b2/b3 deletions. The entire coding region of DAZL was sequenced, and no mutation was found except the single nucleotide polymorphism A→G transition in exon 2 (SNP 260). Patient A46 had undergone surgery at the age of 2 years for unilateral cryptorchidism

CodeAetiologyDAZL (exons from 1 to 11)Deleted gene copiesSemen parameters
DAZ CDY Number (n/ml*106)Motility (A+B %)Morphology (%)
A49*IdiopathicNo mutations 3/4 1b 0.381013
A170IdiopathicNo mutations 3/4 1a 0.92016
A202IdiopathicNo mutations 1/2 1a 103013
A239IdiopathicNo mutations 1/2 1a 4,21416
A286IdiopathicSNP 260 3/4 1b 0.01
A 353*IdiopathicNo mutations 3/4 1a 101522
A 46Cryptorchidism sxNo mutations 1/2 1a 0.01
A 184Varicocele sxNo mutations 1/2 1a 0.602
A 234Varicocele sxSNP 260 3/4 1a 0.738
CS 64*No mutations 3/4 1b 1007840
CS111No mutations 3/4 1b 1536330