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Beckwith–Wiedemann-like macroglossia and 18q23 haploinsufficiency

✍ Scribed by Frédéric Lirussi; Laurence Jonard; Véronique Gaston; Damien Sanlaville; R. Frank Kooy; Birgitta Winnepenninckx; Eamonn R. Maher; David R. FitzPatrick; Christine Gicquel; Marie-France Portnoï; Rémy Couderc; Marie-Paule Vazquez; Michel Bahuau


Book ID
101451237
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
359 KB
Volume
143A
Category
Article
ISSN
1552-4825

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Recurrent deletions and reciprocal dupli
✍ Paweł Stankiewicz; Shashikant Kulkarni; Avinash V. Dharmadhikari; Srirangan Samp 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 848 KB

We report 24 unrelated individuals with deletions and 17 additional cases with duplications at 10q11.21q21.1 identified by chromosomal microarray analysis. The rearrangements range in size from 0.3 to 12 Mb. Nineteen of the deletions and eight duplications are flanked by large, directly oriented seg