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A de novo 8q22.2-24.3 duplication in a patient with mild phenotype

✍ Scribed by D. Concolino; M.A. Iembo; M.T. Moricca; M. Rapsomaniki; R. Marotta; O. Galesi; M. Fichera; C. Romano; P. Strisciuglio


Book ID
116433426
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
717 KB
Volume
55
Category
Article
ISSN
1769-7212

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De novo direct duplication of 15q15?q24
✍ Han, Jin-Yeong; Kim, Kyeong-Hee; Lee, Hyoung-Doo; Moon, Soon-Young; Shaffer, Lis πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 15 KB πŸ‘ 2 views

Duplication of distal 15q results in a recognizable clinical phenotype. We report here on a 25-day-old boy with a de novo interstitial duplication of chromosome region 15q15-q24. The manifestations in this patient are milder than those of previously described patients and include minor facial anomal