𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Smith–Magenis syndrome and moyamoya disease in a patient with del(17)(p11.2p13.1)

✍ Scribed by Santhosh Girirajan; Roberto Mendoza-Londono; Christopher N. Vlangos; Lucie Dupuis; Norma J. Nowak; David J. Bunyan; Eli Hatchwell; Sarah H. Elsea

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

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Sleep disturbance in smith-magenis syndr
Sleep disturbance in smith-magenis syndrome (del 17 p11.2)
✍ Smith, Ann C.M.; Dykens, Elizabeth; Greenberg, Frank 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 32 KB 👁 2 views

## Smith -Magenis syndrome (SMS) is a clinically recognizable multiple congenital anomaly and mental retardation syndrome caused by an interstitial deletion of chromosome 17 p11.2. Although the physical and molecular genetic features of SMS are increasingly well understood, work is more limited on

Two patients with duplication of 17p11.2
Two patients with duplication of 17p11.2: The reciprocal of the Smith-Magenis syndrome deletion?
✍ Brown, Angela; Phelan, Mary C.; Patil, Shivanand; Crawford, Eric; Rogers, R. Cur 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 23 KB

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