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De novo 5q35.5 duplication with clinical presentation of Sotos syndrome

✍ Scribed by Jurate Kasnauskiene; Loreta Cimbalistiene; Zivile Ciuladaite; Egle Preiksaitiene; Zita Aušrelė Kučinskienė; Joe A. Hettinger; Carolina Sismani; Philippos C. Patsalis; Vaidutis Kučinskas


Book ID
102702229
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
794 KB
Volume
155
Category
Article
ISSN
1552-4825

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Sotos syndrome associated with a de novo
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## Abstract We describe a de novo balanced reciprocal translocation between the long arms of chromosomes 5 and 8 [46,XX,t(5;8)(q35;q24.1)] in a 15‐month‐old girl with a typical Sotos syndrome phenotype. Involvement of the 5q35 region was previously reported (Maroun et al. [1994: Am J Med Genet 50:2

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