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Hum. Reprod. Advance Access originally published online on May 19, 2005
Human Reproduction 2005 20(9):2552-2555; doi:10.1093/humrep/dei083
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© The Author 2005. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions{at}oupjournals.org

Pericentric inversion of chromosome 2 in a patient with the empty follicle syndrome: Case report

Sanja Vujisic1,5, Feodora Stipoljev2, Renato Bauman3, Romana Dmitrovic3 and Davor Jezek4

1 Clinical Laboratory for Human Reproduction, 2 Clinical Cytogenetic Laboratory, Department of Obstetrics and Gynaecology and 3 Department of Obstetrics and Gynaecology, Medical School, University of Zagreb, Sveti Duh Hospital, Zagreb and 4 Institute of Histology and Embryology, Medical School, University of Zagreb, Zagreb, Croatia

5 To whom correspondence should be addressed at: Clinical Laboratory for Human Reproduction, Department of Obstetrics and Gynecology, Medical School, University of Zagreb, Sveti Duh Hospital, Sveti Duh 64, 10000 Zagreb, Croatia. Email: sanja_vujisic{at}hotmail.com

The empty follicle syndrome (EFS) is defined as a lack of retrieved oocytes from follicles, at the time of repeated aspiration and flushing, following ovulation induction. The actual mechanism responsible for the EFS is still unknown. The aim of this study was to offer more information regarding the possible connection of this syndrome with pericentric inversion of chromosome 2. We give a case report of a patient who had multiple failed IVF attempts, due to the absence of oocyte and granulosa cells in the follicular fluid, following oocyte retrieval in both stimulated and natural cycles. Chromosomal analysis showed the presence of a pericentric inversion of chromosome 2: 46,XX,inv(2)(p11q21) in the female partner karyotype, while the male partner had a normal karyotype. Our case showed possible genetic factor influence in the aetiology of EFS.

Key words: chromosome 2/cytogenetic analysis/empty follicle syndrome/pericentric inversion


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