title: Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region.
abstract: A 3-year-old female referred with developmental delay, hypotonia and seizures was found to have a cryptic interstitial duplication of the Prader-Willi/Angelman critical region (PWACR). Her clinical features form part of a common phenotype characteristic of PWACR duplications including developmental delay, behavioural problems and speech difficulties. Microsatellite analysis showed that the duplication had arisen de novo, was maternal in origin and involved the entire 4-Mb PWACR between the common deletion breakpoints. The existence of cryptic rearrangements emphasises the need for molecular tests alongside conventional cytogenetics when investigating abnormalities involving this imprinted region.
authors.affiliation: Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wilts, UK.
authors.forename: N S
authors.initials: NS
authors.lastname: Thomas
authors.forename: C E
authors.initials: CE
authors.lastname: Browne
authors.forename: C
authors.initials: C
authors.lastname: Oley
authors.forename: S
authors.initials: S
authors.lastname: Healey
authors.forename: J A
authors.initials: JA
authors.lastname: Crolla
mesh_terms: D017204:Angelman Syndrome / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics* / Q000648:ultrastructure*; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D020440:Gene Duplication; D015321:Gene Rearrangement; D018392:Genomic Imprinting; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000235:genetics*; D012640:Seizures / Q000235:genetics; D013064:Speech Disorders / Q000235:genetics