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Unexpected results in the constitution of small supernumerary marker chromosomes

โœ Scribed by Annalisa Vetro; Emmanouil Manolakos; Michael B. Petersen; Loretta Thomaidis; Thomas Liehr; Gianfranco Croci; Fabrizia Franchi; Maria Marinelli; Emanuela Meneghelli; Babara Dal Bello; Stefania Cesari; Angela Iasci; Giulia Arrigo; Orsetta Zuffardi

Book ID
116433458
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
615 KB
Volume
55
Category
Article
ISSN
1769-7212

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FISH characterization of small supernumerary marker chromosomes in two Prader-Willi patients
โœ Bettio, D.; Rizzi, N.; Giardino, D.; Gurrieri, F.; Silvestri, G.; Grugni, G.; La ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 292 KB ๐Ÿ‘ 2 views

A small supernumerary chromosome was observed in two Prader-Willi syndrome (PWS) patients. The clinical diagnosis of PWS was confirmed by the ascertainment of the deletion of region 15q11-13 in one case and uniparental disomy (UPD) of the same region in the other. The markers were negative for dysta