Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated |
| |
Authors: | Kotzot Dieter Utermann Gerd |
| |
Institution: | Department of Medical Genetics, Molecular and Clinical Pharmacology, Division of Clinical Genetics, Medical University of Innsbruck, Innsbruck, Austria. DieterKotzot@gmx.de |
| |
Abstract: | Uniparental disomy (UPD) describes the inheritance of a pair of chromosomes from only one parent. The concept was introduced in Medical Genetics by Engel (1980); Am J Med Genet 6:137-143. Aside UPD 15, which is the most frequent one, up to now (February 2005) 197 cases with whole chromosome maternal UPD other than 15 (124 X heterodisomy, 59 X isodisomy, and 14 cases without information of the mode of UPD) and 68 cases with whole chromosome paternal UPD other than 15 (13 X heterdisomy, 53 X isodisomy, and 2 cases without information of the mode of UPD) have been reported. In this review we discuss briefly the problems associated with UPD and provide a comprehensive clinical summary with a bibliography for each UPD other than 15 as a guide for genetic counseling. |
| |
Keywords: | |
本文献已被 PubMed 等数据库收录! |
|