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

✍ Scribed by Fan, Yao-Shan ;Farrell, S. A.


Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
137 KB
Volume
49
Category
Article
ISSN
0148-7299

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Multi-disciplinary clinical study of Smi
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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

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## Smith -Magenis syndrome (SMS) is a distinct and clinically recognizable multiple congenital anomaly (MCA) and mental retardation syndrome caused by an interstitial deletion of chromosome l7 p11.2. The phenotype of SMS has been well described and includes: a characteristic pattern of physical fe

Mosaicism for del(17) (p11.2p11.2) under
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## 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

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## 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
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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