27 research outputs found
Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia
Living-Donor Kidney Transplant in a Patient With Type B Mayer-Rokitansky-Küster-Hauser Syndrome, Reconstructed Vagina, and Abnormal Pelvic Vessels: A Case Report
Hat eine IVF/ICSI-Behandlung einen gesundheitsökonomischen Wert für die deutsche Gesellschaft?
Female genital tract congenital malformations and the applicability of the ESHRE/ESGE classification: a systematic retrospective analysis of 920 patients
Increased incidence of abnormally located ovary in patients with Mayer–Rokitansky–Küster–Hauser syndrome: a retrospective analysis with magnetic resonance imaging
Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association).
Item does not contain fulltextMayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by the congenital absence of uterus and upper part of the vagina as a result of Mullerian duct agenesis. The combination of MRKH syndrome with renal anomalies and cervicothoracic dysplasia is known as MURCS association (Mullerian aplasia, Renal anomalies, and Cervicothoracic Somite dysplasia). The etiology remains poorly understood. We delineate this disease by reporting on a 16-year-old patient showing the cardinal features of MURCS association accompanied by a persistent left superior vena cava and atrial septal defect, orofacial clefting, and mild reduction deformities of the left hand. Fluorescence in situ hybridization did not show major deletions or duplications of the DiGeorge/VCFS (velocardiofacial syndrome) region at chromosome 22q11.1 as well as the TBX5/TBX3 region at 12q24.1. In addition, sequencing of the TP63L (p63) gene, residing at 3q27, remained normal in the presented patient. Thus, we provide further evidence for the genetic heterogeneity of MURCS association