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Myotonic dystrophy associated with 47 XYY syndrome
Author(s) -
Asano Atsutoshi,
Motomura Naoyasu,
Yokota Shingo,
Yoneda Hiroshi,
Sakai Toshiaki,
Tsutsumi Shigetoshi
Publication year - 2000
Publication title -
psychiatry and clinical neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.609
H-Index - 74
eISSN - 1440-1819
pISSN - 1323-1316
DOI - 10.1046/j.1440-1819.2000.00645.x
Subject(s) - myotonic dystrophy , myotonia , medicine , short stature , cataracts , atrophy , pediatrics , weakness , testicular atrophy , ophthalmology , surgery
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.