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Cytogenetic and array-CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers–Danlos syndrome

✍ Scribed by A.L. Mosca; P. Callier; A. Masurel-Paulet; C. Thauvin-Robinet; N. Marle; M. Nouchy; F. Huet; D. Dipanda; A. De Paepe; P. Coucke; F. Mugneret; L. Faivre


Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
111 KB
Volume
152A
Category
Article
ISSN
1552-4825

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Interstitial deletion of 14q24.3-q32.2 i
✍ Sultan Cingöz; Iben Bache; Lise Bjerglund; Hans-Hilger Ropers; Niels Tommerup; H 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 132 KB 👁 1 views

## Abstract Distal interstitial deletions of chromosome 14 involving the 14q24‐q23.2 region are rare, and only been reported so far in 20 patients. Ten of these patients were analyzed both clinically and genetically. Here we present a de novo interstitial deletion of chromosome 14q24.3‐q32.2 in a m