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CHARGE association in a child with de novo inverted duplication (14)(q22 → q24.3)

✍ Scribed by North, Kathryn N. ;Wu, Bai Lin ;Cao, Benning N. ;Whiteman, David A. H. ;Korf, Bruce R.


Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
481 KB
Volume
57
Category
Article
ISSN
0148-7299

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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 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 15 KB 👁 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