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FISH analysis in Prader-Willi and Angelman syndrome patients

✍ Scribed by Bettio, D. ;Rizzi, N. ;Giardino, D. ;Grugni, G. ;Briscioli, V. ;Selicorni, A. ;Carnevale, F. ;Larizza, L.

Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
495 KB
Volume
56
Category
Article
ISSN
0148-7299

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✦ Synopsis

W e 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 15qll-q13 region in 7 out of 15 PWS patients, and FISH analysis of the D15Sll 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.

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