| Summary: | Harry Pachajoa,1,2 Lina Perafan,1,3 Isabella Ramos,1,4 Álvaro J Escobar4 1Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Faculty of Health Sciences, Universidad Icesi, Cali, Colombia; 2Department of Medical Genetics, Fundación Valle del Lili, Cali, Colombia; 3Hospitalization Service, Fundación Valle del Lili, Cali, Colombia; 4Department of Obstetrics and Gynecology, Fundación Valle del Lili, Cali, ColombiaCorrespondence: Harry Pachajoa Tel +57 2 331 90 90, Extension: 7486Fax +57 2 3319090Email hmpachajoa@icesi.edu.coAbstract: 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
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