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Supernumerary marker 15 chromosome in a patient with Prader–Willi syndrome

✍ Scribed by D Borelina; S Esperante; V Gutnisky; V Ferreiro; M Ferrer; F Giliberto; G Frechtel; L Francipane; I Szijan


Book ID
110725646
Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
428 KB
Volume
65
Category
Article
ISSN
0009-9163

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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