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De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features

✍ Scribed by Toshiyuki Yamamoto, Mari Matsuo, Shino Shimada, Noriko Sangu…


Book ID
120698092
Publisher
BioMed Central
Year
2013
Tongue
English
Weight
720 KB
Volume
6
Category
Article
ISSN
1755-8166

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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