Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report.

Background: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (Online Mendelian Inheritance in Man [OMIM] #277000) is a congenital condition characterized by the total or partial agenesis of vagina and uterus. Agenesis can be isolated (MRKH 1) or associated with other renal, vertebral or cardiac defects (MRKH 2).

Case Presentation: In this paper, we report a case of a Caucasian patient showing the clinical signs associated with MRKH.

Cardiofaciocutaneous syndrome with rare structural variant in gene associated with neurodevelopmental disorders.

We describe a girl with clinical signs of cardiofaciocutaneous syndrome who simultaneously presents a mutation in the BRAF gene and a 9p24.3 microduplication. This genetic condition has never been described in the literature and could explain the phenotypic variability observed in the girl.