title: Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism.
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.
authors.affiliation: Institut für Medizinische Biologie und Humangenetik, Universität Innsbruck, Austria. judith.loeffler@uibk.ac.at
authors.forename: Judith
authors.initials: J
authors.lastname: Loeffler
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Soelder
authors.forename: Martin
authors.initials: M
authors.lastname: Erdel
authors.forename: Barbara
authors.initials: B
authors.lastname: Utermann
authors.forename: Andreas
authors.initials: A
authors.lastname: Janecke
authors.forename: Hans-Christoph
authors.initials: HC
authors.lastname: Duba
authors.forename: Gerd
authors.initials: G
authors.lastname: Utermann
mesh_terms: D000293:Adolescent; D002871:Chromosome Banding; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009030:Mosaicism / Q000235:genetics*; D009095:Mullerian Ducts / Q000002:abnormalities*; D012303:Ring Chromosomes; D014599:Uterus / Q000002:abnormalities; D014621:Vagina / Q000002:abnormalities