Mayer-Rokitansky-Kuster-Hauser Syndrome and 16p11.2 Recurrent Microdeletion: a case report and review of the literature

Mayer-Rokitansky-Kuster-Hauser syndrome (OMIM #277000) is a rare disorder of the female reproductive tract. Its etiology is still unknown for the majority of patients, even if the genetic background of this condition has been intensively studied. Chromosome 16p11.2 deletion syndrome (OMIM # 611913) is a well-known recurrent deletion syndrome that can present with various clinical phenotypes, including developmental delay, intellectual disability, autism spectrum disorder, obesity, and an increased frequency of congenital defects.

Source: Journal of Pediatric and Adolescent Gynecology - May 3, 2018 Category: OBGYN Authors: Marta Gatti, Gianluca Tolva, Silvia Bergamaschi, Claudia Giavoli, Susanna Esposito, Paola Marchisio, Donatella Milani Source Type: research