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Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith–Magenis syndrome should contain the RAI1 gene

✍ Scribed by Christopher N. Vlangos; Meredith Wilson; Jan Blancato; Ann C.M. Smith; Sarah H. Elsea


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
179 KB
Volume
132A
Category
Article
ISSN
1552-4825

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Mosaicism for del(17) (p11.2p11.2) under
✍ Juyal, Ramesh C.; Kuwano, Akira; Kondo, Ikuko; Zara, Federico; Baldini, Antonio; 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 471 KB

## Smith -Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation syndrome associated with deletion of band p11.2 of chromosome 17. The deletion is typically detected by high-resolution cy- togenetic analysis of chromosomes from peripheral lymphocytes. Fluorescence in situ hybr