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.
Original language | English |
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Pages (from-to) | 224-228 |
Number of pages | 5 |
Journal | American Journal of Medical Genetics |
Volume | 56 |
Issue number | 2 |
DOIs | |
Publication status | Published - 1995 |
Keywords
- Angelman syndrome
- chromosome 15
- FISH analysis
- Prader-Willi syndrome
ASJC Scopus subject areas
- Genetics(clinical)