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

Authors :
Thomas NS
Browne CE
Oley C
Healey S
Crolla JA
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.

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