Laparoscopic Hysterectomy and Bilateral Salpingectomy in a Patient with Microduplication Syndrome (20p13p12.1) and a Bicornuate Uterus: An Unreported Association

Trisomy 20p is a chromosomal anomaly resulting from whole or partial duplication of the short arm of chromosome 20. It is a rarely reported syndrome and it is estimated that there are only a few cases of this condition worldwide, which hampers the phenotypic characterization of this entity. Conversely, müllerian anomalies include a group of congenital malformations of the uterus, vagina, cervix, and fallopian tubes resulting from alterations in the embryological development of the müllerian ducts. We report a case of pure trisomy 20p diagnosed using array comparative genomic hybridization (CGH) accompanied by a müllerian anomaly in a female patient with abnormal growth pattern, round face, coarse hair, broad nose, long palpebral fissure, epicanthus, and megaureter.