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Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region.
- Source :
-
Human genetics [Hum Genet] 1999 Nov; Vol. 105 (5), pp. 384-7. - Publication Year :
- 1999
-
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.
- Subjects :
- Child, Preschool
Developmental Disabilities genetics
Female
Gene Duplication
Gene Rearrangement
Genomic Imprinting
Humans
In Situ Hybridization, Fluorescence
Infant
Male
Microsatellite Repeats
Pedigree
Phenotype
Seizures genetics
Speech Disorders genetics
Angelman Syndrome genetics
Chromosome Aberrations
Chromosomes, Human, Pair 15 genetics
Chromosomes, Human, Pair 15 ultrastructure
Prader-Willi Syndrome genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0340-6717
- Volume :
- 105
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Human genetics
- Publication Type :
- Academic Journal
- Accession number :
- 10598802
- Full Text :
- https://doi.org/10.1007/s004390051120