Clinical features in a girl with Duchenne muscular dystrophy with an X-autosome translocation; (X;4)(p21;q26).
A female with Duchenne muscular dystrophy (DMD) and an X/4 translocation is reported. Her clinical signs, laboratory data and muscle pathology are compatible with those of typical DMD. She also has a ASD, type II, with some kind of cardiomyopathy. Detailed cytogenetic analyses by means of high resolution banding and R-banding techniques showed that the exchange point was located in band p21 of the X chromosome, suggesting the localization of the DMD gene within it. The clinical course of DMD in a female with an X/autosome translocation is variable, as in the case of heterozygous females, compared with that in male patients. The mild phenotype in female cases with an X/autosome translocation could be explained by the fact that in some cultured cells the normal X chromosomes replicate early and therefore may be active.
D002675:Child, Preschool; D002894:Chromosomes, Human, Pair 4; D005260:Female; D005838:Genotype; D006801:Humans; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D013577:Syndrome; D014178:Translocation, Genetic; D014960:X Chromosome