Facioscapulohumeral muscular dystrophy with chromosome 9p deletion.
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).
Ueyama
H
H
First Department of Internal Medicine, Kumamoto University School of Medicine, Kumamoto, Japan.
Kumamoto
T
T
Mita
S
S
Kimura
E
E
Nakagawa
M
M
Uchino
M
M
Ando
M
M
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*
D015246:Deoxyribonuclease EcoRI