Related Experiment Videos
Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism
Judith Loeffler1, Elisabeth Soelder, Martin Erdel
1Institut für Medizinische Biologie und Humangenetik, Universität Innsbruck, Austria. judith.loeffler@uibk.ac.at
American Journal of Medical Genetics. Part A
|December 28, 2002
Abstract:
We report on a woman with Muellerian aplasia, renal and skeletal anomalies, and minor dysmorphic signs. Conventional cytogenetic analysis revealed mosaicism for a small supernumerary, undefinable ring chromosome. Chromosome microdissection and reverse painting demonstrated that this marker contained pericentric material from chromosome 8 (8p12q12). Thus, we identified a Muellerian aplasia phenotype with partial trisomy 8 mosaicism.