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

Autori
Vujisić, Sanja ; Stipoljev, Feodora ; Bauman, Renato ; Dmitrović, Romana ; Ježek, Davor

Izvornik
Human reproduction (0268-1161) 20 (2005), 9; 2552-2555

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
chromosome 2 ; cytogenetic analysis ; empty follicle syndrome ; pericentric inversion

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA