Clinic of Medical Genetics, Aydın State Hospital, Aydın, Turkey
Clinic of Medical Genetics, University of Health Sciences, Kanuni Sultan Süleyman Training and Research Hospital, İstanbul, Turkey
Balkan Med J. 2018 May 29;35(3):272-274. doi: 10.4274/balkanmedj.2017.0378. Epub 2017 Dec 8.
Ovotesticular disorder is characterized by the presence of testicular and ovarian tissues in the same individual. Single gene mutations in and can lead to ovotesticular disorder of sexual development.
Herein, we report a 3-month-old phenotypically female baby in whom differentiated tissues of both Müllerian and Wolffian ducts were detected on pathological analysis of laparoscopic biopsy material. Chromosomal analysis observed 46,XY, der(9)t(3;9)(p25;p24) with deletion of 9p24.3p23 including the gene cluster and duplication of 3p26.3p24.3 on array comparative genomic hybridisation.
In support of previous literature, we found that haploinsufficiency of the gene cluster leads to ovotesticular disorder of sexual development. In addition, we emphasize that array comparative genomic hybridisation is an important technique in the molecular diagnosis of ovotesticular disorder of sexual.
卵睾性发育障碍的特征是同一个体同时存在睾丸和卵巢组织。 和 中的单个基因突变可导致卵睾性性发育障碍。
本研究报告了一例 3 个月大的表型女性婴儿，腹腔镜活检组织的病理分析显示存在米勒管和沃夫管的分化组织。染色体分析观察到 46,XY，der(9)t(3;9)(p25;p24)，9p24.3p23 缺失包括 基因簇，3p26.3p24.3 重复。在比较基因组杂交的阵列上。
支持以往的文献，我们发现 基因簇的单倍功能不足导致卵睾性性发育障碍。此外，我们强调阵列比较基因组杂交是卵睾性性发育障碍分子诊断的重要技术。
