644 Polysomnographic study in children with interstitial deletion of 17P.11.2 chromosome (Smith-Magenis syndrome)
β Scribed by M. Roccella
- Book ID
- 117363519
- Publisher
- Elsevier Science
- Year
- 1998
- Tongue
- English
- Weight
- 119 KB
- Volume
- 30
- Category
- Article
- ISSN
- 0167-8760
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π SIMILAR VOLUMES
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
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