Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated.
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.
Kotzot
Dieter
D
Department of Medical Genetics, Molecular and Clinical Pharmacology, Division of Clinical Genetics, Medical University of Innsbruck, Innsbruck, Austria. DieterKotzot@gmx.de
Utermann
Gerd
G
D025063:Chromosome Disorders / Q000235:genetics / Q000473:pathology; D002877:Chromosomes, Human / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D005260:Female; D015894:Genome, Human; D006801:Humans; D008297:Male; D008957:Models, Genetic; D010641:Phenotype; D012196:Review Literature as Topic; D024182:Uniparental Disomy