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11Q duplication in a patient with Pitt-Rogers-Danks phenotype.

✍ Scribed by de Die-Smulders, Christine E.M.; Engelen, John J.M.


Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
183 KB
Volume
66
Category
Article
ISSN
0148-7299

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An 11q11–q13.3 duplication, including FG
✍ Fernanda S. Jehee; DΓ©bora R. Bertola; Krishna K. Yelavarthi; Ana C.V. Krepischi- πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 226 KB

## Abstract Interstitial duplications of 11q are very rare and seldom reported. In this paper we describe the first case of a duplication involving bands 11q11 and 11q12. This newly described patient has multiple craniosynostoses, congenital heart defect and developmental delay, and is a carrier of