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Alagille syndrome withde Novo del(20) (p 11.2)

✍ Scribed by Teebi, Ahmad S. ;Murthy, D. S. Krishna ;Ismail, E. A. R. ;Redha, A. A.

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 272 KB
Volume: 42
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320420109

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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