title: Facioscapulohumeral muscular dystrophy with chromosome 9p deletion.
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).
authors.affiliation: First Department of Internal Medicine, Kumamoto University School of Medicine, Kumamoto, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Ueyama
authors.forename: T
authors.initials: T
authors.lastname: Kumamoto
authors.forename: S
authors.initials: S
authors.lastname: Mita
authors.forename: E
authors.initials: E
authors.lastname: Kimura
authors.forename: M
authors.initials: M
authors.lastname: Nakagawa
authors.forename: M
authors.initials: M
authors.lastname: Uchino
authors.forename: M
authors.initials: M
authors.lastname: Ando
mesh_terms: D000328:Adult; D015139:Blotting, Southern; D002503:Centromere; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D000013:Congenital Abnormalities; D015246:Deoxyribonuclease EcoRI; D005152:Facial Muscles; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics* / Q000503:physiopathology*
chemical_list: D015246:Deoxyribonuclease EcoRI