OBJECTIVE: To assess the association between copy number variations (CNVs) and @entity1167 and azoospermic @entity1 . DESIGN: Genetic association study. SETTING: University. @entity1 (S): Australian @entity1 : 19 with histologically confirmed @entity1167 , 110 @entity1 with @entity3893 in the absence of histologic data, and 97 fertile @entity1 (controls). INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): The identification of @entity471 by microarray and/or multiplex ligation-dependent probe amplification (MLPA), and the localization of unique @entity471 encoded proteins to the @entity1 testis. RESULT(S): Microarray identified two CNVs unique to @entity1167 @entity1 . One containing the @entity68479 gene and a second containing @entity33976 and the long noncoding RNA LOC100507205. All three genes are transcribed in the @entity1 testis, and @entity68479 and @entity33976 localize to meiotic cells. The reverse genetic screen for CNVs in meiosis genes identified in @entity19 models further identified CNVs including @entity37506 as being associated with @entity3893 . CONCLUSION(S): These data raise the possibility that, while relatively rare, CNVs may contribute to @entity1 @entity4810 and that @entity471 screening should be incorporated into long-term plans for genome profiling as a diagnostic tool.

Copy number variation associated with XXXX in @entity4810 .

@entity1 :: ('9606', 'Species') :: ['human', 'patients', 'PATIENT', 'men'] @entity4810 :: ('MESH:D007248', 'Disease') :: ['male infertility'] @entity19 :: ('10090', 'Species') :: ['mouse'] @entity68479 :: ('25924', 'Gene') :: ['MYRIP'] @entity37506 :: ('15512(Tax:10090)', 'Gene') :: ['HSPA2'] @entity471 :: ('12143', 'Species') :: ['CNV'] @entity33976 :: ('57689', 'Gene') :: ['LRRC4C'] @entity1167 :: ('MESH:D006323', 'Disease') :: ['meiosis arrest', 'meiotic arrest'] @entity3893 :: ('MESH:D053713', 'Disease') :: ['azoospermia']
@entity1167 :: (MESH:D006323,Disease) :: ['meiotic arrest']
