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

Abstract

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.

Keywords:

• trisomy
• trisomy 20p
• chromosome duplication
• duplication 20p
• comparative genomic hybridization
• uterine anomalies

Consent and Ethics

Written informed consent has been provided by the patient and her parents, to have the case details and any accompanying images published. This case report was approved by the Institutional Review Board (IRB) in the Fundación Valle del Lili.

Acknowledgment

We thank the family for their interest and cooperation with the publication of this report.

Disclosure

The authors report no conflicts of interest for this work.

Additional information

Funding

The authors did not receive any funding for this work.