Pericentric inversion of chromosome 2 in a patient with the empty follicle syndrome: Case report
Pericentric inversion of chromosome 2 in a patient with the empty follicle syndrome: Case report
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DOI：
10.1093/humrep/dei083
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发表时间：
2005-09-01
影响因子：
6.1
通讯作者：
Jezek, D
中科院分区：
文献类型：
--
作者：
Vujisic, S;Stipoljev, F;Jezek, D
空卵泡综合征（EFS）是指在诱导排卵后反复抽吸和冲洗时，缺乏从卵泡中回收的卵母细胞。负责EFS的实际机制仍然未知。本研究的目的是提供更多的信息，这种综合征与染色体2臂间倒位的可能联系。我们给出了一个病例报告的患者谁有多次失败的体外受精尝试，由于卵泡液中没有卵母细胞和颗粒细胞，在刺激和自然周期的卵母细胞检索。染色体分析显示，在女性伴侣的核型中存在染色体2：46，XX，inv（2）（p11q21）的臂间倒位，而男性伴侣的核型正常。我们的病例显示了遗传因素在EFS病因学中的影响。
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.