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Mosaicism in Prader-Willi syndrome: Detection using fluorescent in situ hybridization

✍ Scribed by Golden, Wendy L.; Sudduth, Kathy W.; Burnett, Susan H.; Kelly, Thaddeus E.

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 3 KB
Volume: 85
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990806)85:4<424::aid-ajmg22>3.0.co;2-2

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✦ Synopsis

Fig. 1. a: Representative GTG-banded chromosome 15s demonstrating lack of a detectable deletion, b: representative cell from FISH analysis demonstrating the normal signal pattern for SNRPN found in 11/39 cells, and c: Representative cell from the same FISH analysis demonstrating a deletion of SNRPN found in 39/50 cells.

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