Two-Step diagnostic scheme for detection of clinically relevant AZF deletions

* CDY2 and XKRY gene copies are also located proximal to AZFb; CSPG4LY has no Y-specific STS; other genes have unknown function.

USP9Y, DBY, (UTY)

II. Diagnostic of AZF gene deletions

CDY2 *, Corf14 , CYorf15A/B EIF1AY, HSFY, PRY RBMY, RPS4Y2, SMCY TTY5, TTY6, TTY9, TTY10TTY13, TTY14, XKRY *

BPY2, CDY1, CSPG4LY *DAZ, GOLGA2LYTTY3, TTY4, TTY17

AZFb

AZFc

Yq11.23

Yq11.22

Yq11.21

Y

sY1264+

AZFa-prox1+

AZFa-prox2-

AZFa-dist1-

AZFa-dist2+

AZFa

sY1227sY1228-

sY1291-

sY639+

sY1192-

sY1197+

sY1054-

sY1125+

I. Diagnostic of complete AZF deletions

Reference: Vogt et al. (2004) in prep.

The AZF-genes currently analysed for deletion are marked by grey background.