SAGE Publications, Journal of Child Neurology, 1(18), p. 79-81, 2003
DOI: 10.1177/08830738030180012001
Full text: Unavailable
A 2-year-old girl presented with severe global developmental delay, weakness, and an elevated serum creatine kinase level. Her muscle biopsy was consistent with an active dystrophy with absence of dystrophin in about half of the muscle fibers. Fluorescent in situ hybridization analysis showed her karyotype to be 46, X, del X p23.1-p21.1. This large deletion includes the dystrophin gene as well as the region involved in X-linked mental retardation. The genetic mechanism for the manifestation of both diseases is likely non-random inactivation of the X chromosome. To our knowledge, the combination of this dystrophinopathy in association with severe mental retardation has not been described in a girl. ( J Child Neurol 2003; 18: 79—81).