Occurrence of Duchenne dystrophy in Klinefelter's syndrome.
A boy with Duchenne muscular dystrophy and facial dysmorphism in conjunction with Klinefelter's genotype 47XXY is presented; this is an unusual situation with two genetic errors evolving over two generations. Karyotyping should be considered in boys with Duchenne muscular dystrophy who have unusual features.
Ramesh
V
V
Department of Neurology, Royal Manchester Children's Hospital.
Mountford
R
R
Kingston
H M
HM
Kelsey
A
A
Noronha
M J
MJ
Clarke
M A
MA
D002675:Child, Preschool; D005192:Family Health; D005838:Genotype; D006801:Humans; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000150:complications* / Q000235:genetics; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications* / Q000235:genetics; D010375:Pedigree