## 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
Mosaicism for deletion 17p11.2 in a boy with the Smith-Magenis syndrome
β Scribed by Finucane, Brenda M. ;Kurtz, Michael B. ;Ramesh Babu, V. ;Scott, Charles I.
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 592 KB
- Volume
- 45
- Category
- Article
- ISSN
- 0148-7299
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We report on a 22-year-old woman carrying a del(17)(p11.2p12) and presenting with the clinical manifestations of both Smith-Magenis syndrome (SMS) and Joubert syndrome (JS). Her facial anomalies, brachydactyly, severe mental retardation, and selfinjuring behavior could be attributed to SMS, whereas
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