Myotonic dystrophy associated with 47 XYY syndrome.
A case of myotonic dystrophy with 47 XYY presented with tall stature and mental retardation. The patient was a 37-year-old male. In addition to grip myotonia and percussion myotonia, severe weakness and atrophy were noted in the face and the neck muscles and in the distal muscles of the four limbs. He also had diabetes mellitus, cataracts and sexual behavior abnormalities. He was found to be 47 XYY from chromosomal examinations. The combination of 47 XYY syndrome and myotonic dystrophy has not been reported previously.
Asano
A
A
Department of Neuropsychiatry, Osaka Medical College, Osaka, Japan.
Motomura
N
N
Yokota
S
S
Yoneda
H
H
Sakai
T
T
Tsutsumi
S
S
D000328:Adult; D001284:Atrophy; D006801:Humans; D008297:Male; D018908:Muscle Weakness / Q000235:genetics / Q000473:pathology; D009223:Myotonic Dystrophy / Q000235:genetics*; D012729:Sex Chromosome Aberrations