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Article

A Case Report of Familial Mayer-Rokitansky-Küster-Hauser Syndrome as Part of the Phenotypic Spectrum of the 2q37 Deletion.

Journal of pediatric and adolescent gynecology - 1 Feb 2024

Daum Hagit, Kremer Einav, Frumkin Ayala, Meiner Vardiella, Diamant Hagit, Harel Iris, Bauman Dvora

Abstract excerpt

We performed a genetic investigation into the case of an inherited Mayer-Rokitansky-Küster-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 mother and her daughter harbored a...

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PMID: 37734585
DOI: 10.1016/j.jpag.2023.09.006

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