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Facioscapulohumeral muscular dystrophy with chromosome 9p deletion
1First Department of Internal Medicine, Kumamoto University School of Medicine, Kumamoto, Japan.
Neurology
|February 1, 1996
Abstract:
We report a 31-year-old man with facioscapulohumeral muscular dystrophy who had congenital anomalies and mental retardation. Southern blot analysis, using the probe p13E-11, displayed an abnormal EcoRI DNA fragment that reflect DNA rearrangements in facioscapulohumeral muscular dystrophy. In addition, high-resolution cytogenetic study revealed an interstitial deletion of the short arm chromosome 9: 46,XY,del(9)(p.22.1p24.1).