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A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features

✍ Scribed by Poirsier-Violle, Céline; Abourra, Azzedine; Baumann, Clarisse; Perrin, Laurence; Capri, Yline; Mignot, Cyril; Passemard, Sandrine; Drunat, Séverine; Verloes, Alain


Book ID
123087660
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
471 KB
Volume
56
Category
Article
ISSN
1769-7212

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Paternally derived de novo interstitial
✍ Mohandas, T.K.; Park, Jonathan P.; Spellman, Richard A.; Filiano, James J.; Mamo 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 28 KB 👁 2 views

Interstitial duplications of proximal 15q containing the Prader-Willi syndrome/ Angelman syndrome (PWS/AS) region have been found in patients with autism or atypical autism. In these cases with an abnormal phenotype, the duplications were maternally derived. Paternal origin of the duplication has be