Searchable abstracts of presentations at key conferences in endocrinology

ea0029oc14.1 | Male Reproduction | ICEECE2012

X chromosome-linked copy number variations in male infertility

Krausz C. , Giachini C. , Lo Giacco D. , Daguin F. , Ars E. , Ruiz-Castane E. , Forti G. , Rossi E.

The role of CNVs in male infertility is poorly defined, and only those linked to the Y chromosome have been the object of extensive research. Although it has been predicted that the X chromosome is also enriched in spermatogenesis genes, no clinically relevant gene mutations have been identified so far. In order to advance our understanding of the role of X-linked genetic factors in male infertility, we applied high resolution X chromosome specific array-CGH in 199 men with di...