Dystrophinopathy in a young boy with Klinefelter's syndrome.
We report the first case of a child with mild dystrophinopathy associated with Klinefelter's syndrome (karyotype 47, XXY). This 3.5-year-old boy was affected by some symptoms suggestive of Becker's muscular dystrophy. Dystrophin immunostaining and immunoblotting procedures confirmed the diagnosis, but polymerase chain reaction-directed gene analysis failed to reveal any macrodeletion. Methylation-based assay did not show preferential X-inactivation. This confirmed the coexistence of the two active X-chromosomes (one of which was of paternal origin), thus accounting for the mild form of dystrophinopathy in this child affected by Klinefelter's syndrome.
Santoro
L
L
Dipartimento di Clinica Neurofisiologica, Università Federico II, Naples, Italy.
Pastore
L
L
Rippa
P G
PG
Orsini
A V
AV
Del Giudice
E
E
Vita
G
G
Frisso
G
G
Salvatore
F
F
D015153:Blotting, Western; D002675:Child, Preschool; D004303:Dosage Compensation, Genetic; D016189:Dystrophin / Q000378:metabolism; D006801:Humans; D007150:Immunohistochemistry; D007713:Klinefelter Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D016133:Polymerase Chain Reaction
D016189:Dystrophin