Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region

Thomas, N. S., Browne, C. E., Oley, C., Healey, S. and Crolla, J. A. (1999) Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region. Human Genetics, 105 5: 384-387. doi:10.1007/s004390051120


Author Thomas, N. S.
Browne, C. E.
Oley, C.
Healey, S.
Crolla, J. A.
Title Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region
Journal name Human Genetics   Check publisher's open access policy
ISSN 0340-6717
Publication date 1999-11
Sub-type Article (original research)
DOI 10.1007/s004390051120
Volume 105
Issue 5
Start page 384
End page 387
Total pages 4
Editor D. N. Cooper
Y. Nakamura
R. L. Nussbaum
Place of publication Berlin, Germany
Publisher Springer-Verlag
Collection year 1999
Language eng
Subject C3
321011 Medical Genetics
730100 Clinical (Organs, Diseases and Abnormal Conditions)
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.
Keyword Genetics & Heredity
Angelman-syndrome Patients
Proximal 15q
Molecular Characterization
Autism
Mechanisms
Q-Index Code C3

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Medicine Publications
 
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Created: Tue, 10 Jun 2008, 13:45:09 EST