FISH analysis in Prader‐Willi and Angelman syndrome patients
- 27 March 1995
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 56 (2) , 224-228
- https://doi.org/10.1002/ajmg.1320560222
Abstract
We report on a combined high resolution cytogenetic and fluorescent in situ hybridization study (FISH) on 15 Prader‐Willi syndrome (PWS) and 14 Angelman syndrome (AS) patients. High resolution banding showed a microdeletion in the 15q11‐q13 region in 7 out of 15 PWS patients, and FISH analysis of the D15S11 and SNRPN cosmids demonstrated absence of the critical region in three additional cases. Likewise 8 out of 14 AS patients were found to be deleted with FISH, using the GABRB3 specific cosmid, whereas only 4 of them had a cytogenetically detectable deletion.Keywords
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