title: Maternal origin of deletion 15q11-13 in 25/25 cases of Angelman syndrome.
abstract: About half of the cases of Angelman syndrome arise from deletions of chromosome band 15q12. In 25 cases we have been able to determine the parental origin of the deletion and, in line with other reported cases, we have found the deletion to be of maternal origin. There were no exceptions. The parental origin was determined using cytogenetic markers in 13 of the cases, in nine by using the pattern of inheritance of restriction fragment length polymorphisms, and in three using both techniques.
authors.affiliation: Mothercare Department of Paediatric Genetics, Institute of Child Health, London, UK.
authors.forename: J C
authors.initials: JC
authors.lastname: Smith
authors.forename: T
authors.initials: T
authors.lastname: Webb
authors.forename: M E
authors.initials: ME
authors.lastname: Pembrey
authors.forename: M
authors.initials: M
authors.lastname: Nichols
authors.forename: S
authors.initials: S
authors.lastname: Malcolm
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000483:Alleles; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D013577:Syndrome
chemical_list: D005819:Genetic Markers