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Hypoventilation in REM sleep in a case of 17p11.2 deletion (Smith–Magenis syndrome)

✍ Scribed by Chiara Leoni; Laura Cesarini; Serena Dittoni; Domenica Battaglia; Antonio Novelli; Laura Bernardini; Anna Losurdo; Catello Vollono; Elisa Testani; Giacomo Della Marca; Giuseppe Zampino

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

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J.M. and H.G. are two unrelated male patients with developmental delay. Cytogenetic analysis detected a duplication of 17~11.2 in both patients. The extent of the duplicated region was determined using single copy DNA probes: cen-Dl7S58-Dl7S29-D17S258-D 1757 1-D 175445-D 178122-tel. Four of the six