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A rare seen case with homozygosity for pericentric inversion of chromosome 9 and primary infertility

Gulay Ceylan, Cavit Ceylan, Huseyin Yuce

Am J Case Rep 2008; 9:385-388

ID: 869300


Background: Pericentric inversions of chromosome 9 are the most common pericentric inversions in humans. We investigate if there is an association between primary infertility and homozygosity for pericentric inversion of chromosome 9 and perform a search on recent literature.
Case Report: The patient applied our laboratuary because of primary infertility and oligozoospermia. Convantional cytogenetic analysis and Y chromosome microdeletions screening were performed fort the patient. At the end of the convantional cytogenetic analysis and Y chromosome microdeletions screening, homozygosity for pericentric inversion of chromosome 9 and no microdeletion for Y chromosome was found, respectively.
Conclusions: Although pericentric inversion of chromosome 9 is thought to be a normal chromosomal variant, homozygosity for pericentric inversion of chromosome 9 can be the cause of primary infertility.

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