Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism.
作者信息
Loeffler Judith, Soelder Elisabeth, Erdel Martin, Utermann Barbara, Janecke Andreas, Duba Hans-Christoph, Utermann Gerd
机构信息
Institut für Medizinische Biologie und Humangenetik, Universität Innsbruck, Austria.
出版信息
Am J Med Genet A. 2003 Jan 30;116A(3):290-4. doi: 10.1002/ajmg.a.10902.
PMID:12503109
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.
摘要
Zotero 插件