## 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
✦ LIBER ✦
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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