✦ LIBER ✦

Two patients with duplication of 17p11.2: The reciprocal of the Smith-Magenis syndrome deletion?

✍ Scribed by Brown, Angela; Phelan, Mary C.; Patil, Shivanand; Crawford, Eric; Rogers, R. Curtis; Schwartz, Charles

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 23 KB
Volume: 63
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960517)63:2<373::aid-ajmg9>3.0.co;2-u

No coin nor oath required. For personal study only.

✦ Synopsis

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 markers, D17S29, D17S258,D17S71, and D17S445, were duplicated by dosage analysis. Fluorescent in situ hybridization (FISH) analysis of H.G., using cosmids for locus D17S29, confirmed the duplication in 17~11.2. Because the deletion that causes the Smith-Magenis syndrome involves the same region of 17~11.2 as the duplication in these patients, the mechanism may be similar to that proposed for the reciprocal deletion/ duplication event observed in Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) and Charcot-Marie-Tooth Type 1A disease (CMTlA). 0 1996 WiIey-Liss, Inc.

📜 SIMILAR VOLUMES

Prenatal diagnosis of interstitial delet

Prenatal diagnosis of interstitial deletion of 17(p11.2p11.2) (Smith-Magenis syndrome)

✍ Fan, Yao-Shan ;Farrell, S. A. 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 137 KB

Multi-disciplinary clinical study of Smi

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

✍ Greenberg, Frank; Lewis, Richard A.; Potocki, Lorraine; Glaze, Daniel; Parke, Ju 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 51 KB

Smith-Magenis syndrome (SMS) is a multiple congenital anomaly, mental retardation (MCA/MR) syndrome associated with deletion of chromosome 17 band p11.2. As part of a multi-disciplinary clinical, cytogenetic, and molecular approach to SMS, detailed clinical studies including radiographic, neurologic

Hypoventilation in REM sleep in a case o

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

✍ Chiara Leoni; Laura Cesarini; Serena Dittoni; Domenica Battaglia; Antonio Novell 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 148 KB 👁 2 views

Review of disrupted sleep patterns in Sm

Review of disrupted sleep patterns in Smith–Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion

✍ Eilis A. Boudreau; Kyle P. Johnson; Angela R. Jackman; Jan Blancato; Marjan Huiz 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 346 KB 👁 1 views

## Abstract Smith–Magenis syndrome (SMS) is a disorder characterized by multiple congenital anomalies and behavior problems, including abnormal sleep patterns. It is most commonly due to a 3.5 Mb interstitial deletion of chromosome 17 band p11.2. Secretion of melatonin, a hormone produced by the pi

Confirmation of a particular but nonspec

Confirmation of a particular but nonspecific metacarpophalangeal pattern profile in patients with the Smith-Magenis syndrome due to interstitial deletion of 17p

✍ Meinecke, Peter 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 364 KB 👁 1 views

Diagnostic FISH probes for del(17)(p11.2

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

✍ Christopher N. Vlangos; Meredith Wilson; Jan Blancato; Ann C.M. Smith; Sarah H. 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 179 KB 👁 1 views