A case report of familial Mayer-Rokitansky-K üster-Hauser syndrome as part of the phenotypic spectrum of the 2q37 deletion
We performed a genetic investigation into the case of an inherited Mayer-Rokitansky-K üster-Hauser (MRKH) syndrome. Our patients were an adolescent and her mother, both with MRKH syndrome. The delivery of a biological offspring was achieved via a gestational carrier. Karyotype and exome sequencing were used to complete a three-generation genetic analysis of the family. Both the moth er and her daughter harbored a deletion of four Mb at the locus of 2q37, a syndrome rarely described in association with MRKH.
Source: Journal of Pediatric and Adolescent Gynecology - Category: OBGYN Authors: Hagit Daum, Einav Kremer, Ayala Frumkin, Vardiella Meiner, Hagit Diamant, Iris Harel, Dvora Bauman Source Type: research