Facioscapulohumeral muscular dystrophy with chromosome 9p deletion.
case_report · Level V
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- Record sourced from PubMed, PMID 8614537.
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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).
Medical subject headings
- Chromosome Deletion
- Chromosomes, Human, Pair 9
- Facial Muscles
- Muscular Dystrophies
Anatomy
- humerus